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dbVar

Database of genomic structural variation

nsv6135399

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:710,003

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: 3548 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):179,172,999-179,883,001

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6135399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	179,172,999	179,883,001
nsv6135399	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	1	648,561
nsv6135399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	178,600,000	179,310,001

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17683245	copy number gain	SAMN20524664	Sequencing	Paired-end mapping	739

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17683245	Remapped	Pass	NW_016107298.1:g.1 _648561dup	GRCh38.p12	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	1	648,561
nssv17683245	Remapped	Perfect	NC_000005.10:g.179 172999_179883001du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	179,172,999	179,883,001
nssv17683245	Submitted genomic		NC_000005.9:g.1786 00000_179310001dup	GRCh37 (hg19)		NC_000005.9	Chr5	178,600,000	179,310,001

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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