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dbVar

Database of genomic structural variation

nsv4384033

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:46,578

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: 381 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):57,187,711-57,234,288

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4384033	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	57,187,711	57,234,288
nsv4384033	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	58,053,877	58,100,454

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15633050	copy number gain	10-1104-002	SNP array	Genotyping	24
nssv15633087	copy number gain	10-1104-004	SNP array	Genotyping	21
nssv15677722	copy number gain	232721S	SNP array	Genotyping	21
nssv15695850	copy number gain	212972	SNP array	Genotyping	20
nssv15696954	copy number gain	125666	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15633050	Remapped	Perfect	NC_000004.12:g.(?_ 57187711)_(5723428 8_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	57,187,711	57,234,288
nssv15633087	Remapped	Perfect	NC_000004.12:g.(?_ 57187711)_(5723428 8_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	57,187,711	57,234,288
nssv15677722	Remapped	Perfect	NC_000004.12:g.(?_ 57187711)_(5723428 8_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	57,187,711	57,234,288
nssv15695850	Remapped	Perfect	NC_000004.12:g.(?_ 57187711)_(5723428 8_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	57,187,711	57,234,288
nssv15696954	Remapped	Perfect	NC_000004.12:g.(?_ 57187711)_(5723428 8_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	57,187,711	57,234,288
nssv15633050	Submitted genomic		NC_000004.11:g.(?_ 58053877)_(5810045 4_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	58,053,877	58,100,454
nssv15633087	Submitted genomic		NC_000004.11:g.(?_ 58053877)_(5810045 4_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	58,053,877	58,100,454
nssv15677722	Submitted genomic		NC_000004.11:g.(?_ 58053877)_(5810045 4_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	58,053,877	58,100,454
nssv15695850	Submitted genomic		NC_000004.11:g.(?_ 58053877)_(5810045 4_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	58,053,877	58,100,454
nssv15696954	Submitted genomic		NC_000004.11:g.(?_ 58053877)_(5810045 4_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	58,053,877	58,100,454

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

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