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dbVar

Database of genomic structural variation

nsv4375141

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:156,641

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: 2060 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):39,372,805-39,529,445

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4375141	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	39,372,805	39,529,445
nsv4375141	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	39,230,324	39,386,964

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15614826	copy number gain	1-0756-004	SNP array	Genotyping	22
nssv15618218	copy number gain	1-0859-003	SNP array	Genotyping	17
nssv15628154	copy number loss	1-0535-001	SNP array	Genotyping	25
nssv15659050	copy number loss	4-0061-001	SNP array	Genotyping	32
nssv15679923	copy number gain	218111	SNP array	Genotyping	26
nssv15681950	copy number gain	211608	SNP array	Genotyping	19
nssv15682177	copy number gain	219367	SNP array	Genotyping	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15614826	Remapped	Perfect	NC_000008.11:g.(?_ 39372805)_(3952944 5_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,372,805	39,529,445
nssv15618218	Remapped	Perfect	NC_000008.11:g.(?_ 39372805)_(3952944 5_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,372,805	39,529,445
nssv15628154	Remapped	Perfect	NC_000008.11:g.(?_ 39372805)_(3952944 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,372,805	39,529,445
nssv15659050	Remapped	Perfect	NC_000008.11:g.(?_ 39372805)_(3952944 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,372,805	39,529,445
nssv15679923	Remapped	Perfect	NC_000008.11:g.(?_ 39372805)_(3952944 5_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,372,805	39,529,445
nssv15681950	Remapped	Perfect	NC_000008.11:g.(?_ 39372805)_(3952944 5_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,372,805	39,529,445
nssv15682177	Remapped	Perfect	NC_000008.11:g.(?_ 39372805)_(3952944 5_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,372,805	39,529,445
nssv15614826	Submitted genomic		NC_000008.10:g.(?_ 39230324)_(3938696 4_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	39,230,324	39,386,964
nssv15618218	Submitted genomic		NC_000008.10:g.(?_ 39230324)_(3938696 4_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	39,230,324	39,386,964
nssv15628154	Submitted genomic		NC_000008.10:g.(?_ 39230324)_(3938696 4_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	39,230,324	39,386,964
nssv15659050	Submitted genomic		NC_000008.10:g.(?_ 39230324)_(3938696 4_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	39,230,324	39,386,964
nssv15679923	Submitted genomic		NC_000008.10:g.(?_ 39230324)_(3938696 4_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	39,230,324	39,386,964
nssv15681950	Submitted genomic		NC_000008.10:g.(?_ 39230324)_(3938696 4_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	39,230,324	39,386,964
nssv15682177	Submitted genomic		NC_000008.10:g.(?_ 39230324)_(3938696 4_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	39,230,324	39,386,964

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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