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dbVar

Database of genomic structural variation

nsv4378888

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:106,063

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: 1698 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):68,570,183-68,676,245

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4378888	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,570,183	68,676,245
nsv4378888	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	69,435,901	69,541,963

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15614393	copy number loss	1-0761-003	SNP array	Genotyping	20
nssv15639988	copy number gain	14-0258-002	SNP array	Genotyping	19
nssv15673314	copy number loss	9-0038-001	SNP array	Genotyping	26
nssv15680490	copy number loss	193290	SNP array	Genotyping	25
nssv15694139	copy number gain	176793	SNP array	Genotyping	18

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15614393	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867624 5_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,676,245
nssv15639988	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867624 5_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,676,245
nssv15673314	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867624 5_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,676,245
nssv15680490	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867624 5_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,676,245
nssv15694139	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867624 5_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,676,245
nssv15614393	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954196 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,541,963
nssv15639988	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954196 3_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,541,963
nssv15673314	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954196 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,541,963
nssv15680490	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954196 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,541,963
nssv15694139	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954196 3_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	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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