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dbVar

Database of genomic structural variation

nsv4371099

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:177,231

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: 2081 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):68,501,387-68,678,617

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4371099	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,501,387	68,678,617
nsv4371099	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	69,367,105	69,544,335

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15635391	copy number gain	12-4168-006	SNP array	Genotyping	26
nssv15640601	copy number gain	14-0344-002	SNP array	Genotyping	24
nssv15651641	copy number loss	2-1528-001	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15635391	Remapped	Perfect	NC_000004.12:g.(?_ 68501387)_(6867861 7_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,387	68,678,617
nssv15640601	Remapped	Perfect	NC_000004.12:g.(?_ 68501387)_(6867861 7_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,387	68,678,617
nssv15651641	Remapped	Perfect	NC_000004.12:g.(?_ 68501387)_(6867861 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,501,387	68,678,617
nssv15635391	Submitted genomic		NC_000004.11:g.(?_ 69367105)_(6954433 5_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,105	69,544,335
nssv15640601	Submitted genomic		NC_000004.11:g.(?_ 69367105)_(6954433 5_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,105	69,544,335
nssv15651641	Submitted genomic		NC_000004.11:g.(?_ 69367105)_(6954433 5_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,367,105	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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