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dbVar

Database of genomic structural variation

nsv6134350

Organism: Homo sapiens

Study:nstd213 (Pham et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:126,066

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: 516 SVs from 57 studies. See in: genome view

Remapped(Score: Pass):233,065,290-233,191,355

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6134350	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	233,065,290	233,191,355
nsv6134350	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_011332690.1	Chr2\|NW_01 1332690.1	10,628	136,693
nsv6134350	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	233,930,000	234,100,001

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17680677	copy number loss	SAMN20524658	Sequencing	Paired-end mapping	48

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17680677	Remapped	Pass	NW_011332690.1:g.1 0628_136693del	GRCh38.p12	Second Pass	NW_011332690.1	Chr2\|NW_01 1332690.1	10,628	136,693
nssv17680677	Remapped	Pass	NC_000002.12:g.233 065290_233191355de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	233,065,290	233,191,355
nssv17680677	Submitted genomic		NC_000002.11:g.233 930000_234100001de l	GRCh37 (hg19)		NC_000002.11	Chr2	233,930,000	234,100,001

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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