nsv4380251

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:13
Validation:Not tested
Clinical Assertions: No
Region Size:47,327

Publication(s):Zarrei et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1097 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):40,839,422-40,886,748

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4380251	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nsv4380251	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	41,345,327	41,392,653

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15630670	copy number loss	1-0600-004	SNP array	Genotyping	15
nssv15631114	copy number loss	1-0602-003	SNP array	Genotyping	23
nssv15631304	copy number loss	1-0618-003	SNP array	Genotyping	21
nssv15652788	copy number loss	2-1540-003	SNP array	Genotyping	28
nssv15674700	copy number loss	185285	SNP array	Genotyping	19
nssv15678901	copy number loss	183433	SNP array	Genotyping	27
nssv15679603	copy number loss	182123	SNP array	Genotyping	24
nssv15679729	copy number loss	192217	SNP array	Genotyping	19
nssv15680931	copy number loss	181220	SNP array	Genotyping	23
nssv15695176	copy number loss	153907	SNP array	Genotyping	16
nssv15696288	copy number loss	157178	SNP array	Genotyping	19
nssv15696974	copy number loss	125921	SNP array	Genotyping	18
nssv15698833	copy number loss	170926	SNP array	Genotyping	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15630670	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15631114	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15631304	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15652788	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15674700	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15678901	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15679603	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15679729	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15680931	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15695176	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15696288	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15696974	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15698833	Remapped	Perfect	NC_000019.10:g.(?_ 40839422)_(4088674 8_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,839,422	40,886,748
nssv15630670	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15631114	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15631304	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15652788	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15674700	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15678901	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15679603	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15679729	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15680931	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15695176	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15696288	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15696974	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653
nssv15698833	Submitted genomic		NC_000019.9:g.(?_4 1345327)_(41392653 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,345,327	41,392,653

dbVar

Database of genomic structural variation

nsv4380251

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant