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dbVar

Database of genomic structural variation

nsv4370193

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:108,435

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: 1699 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):68,570,183-68,678,617

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4370193	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,570,183	68,678,617
nsv4370193	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	69,435,901	69,544,335

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15617218	copy number loss	1-0815-003	SNP array	Genotyping	15
nssv15618662	copy number gain	1-0872-003	SNP array	Genotyping	28
nssv15633108	copy number loss	10-1118-001	SNP array	Genotyping	17
nssv15648122	copy number gain	2-1352-001	SNP array	Genotyping	25
nssv15652680	copy number loss	2-1505-004	SNP array	Genotyping	11

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15617218	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867861 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,678,617
nssv15618662	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867861 7_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,678,617
nssv15633108	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867861 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,678,617
nssv15648122	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867861 7_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,678,617
nssv15652680	Remapped	Perfect	NC_000004.12:g.(?_ 68570183)_(6867861 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,570,183	68,678,617
nssv15617218	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954433 5_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,544,335
nssv15618662	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954433 5_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,544,335
nssv15633108	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954433 5_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,544,335
nssv15648122	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954433 5_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,544,335
nssv15652680	Submitted genomic		NC_000004.11:g.(?_ 69435901)_(6954433 5_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,435,901	69,544,335

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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