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dbVar

Database of genomic structural variation

nsv4380519

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:179,391

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: 2088 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):68,496,855-68,676,245

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4380519	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,496,855	68,676,245
nsv4380519	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	69,362,573	69,541,963

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15634262	copy number gain	11-0004-003	SNP array	Genotyping	20
nssv15641069	copy number gain	14-0349-004	SNP array	Genotyping	21
nssv15684748	copy number gain	OCD154-896623	SNP array	Genotyping	28

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15634262	Remapped	Perfect	NC_000004.12:g.(?_ 68496855)_(6867624 5_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,496,855	68,676,245
nssv15641069	Remapped	Perfect	NC_000004.12:g.(?_ 68496855)_(6867624 5_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,496,855	68,676,245
nssv15684748	Remapped	Perfect	NC_000004.12:g.(?_ 68496855)_(6867624 5_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,496,855	68,676,245
nssv15634262	Submitted genomic		NC_000004.11:g.(?_ 69362573)_(6954196 3_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,362,573	69,541,963
nssv15641069	Submitted genomic		NC_000004.11:g.(?_ 69362573)_(6954196 3_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,362,573	69,541,963
nssv15684748	Submitted genomic		NC_000004.11:g.(?_ 69362573)_(6954196 3_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,362,573	69,541,963

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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