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dbVar

Database of genomic structural variation

nsv5924166

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:5,817

Publication(s):Almarri et al. 2020

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: 377 SVs from 68 studies. See in: genome view

Submitted genomic133,252,413-133,258,229

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5924166	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	133,252,413	133,258,229
nsv5924166	Remapped	Good	GRCh37.p13	Primary Assembly	Second Pass	NC_000009.11	Chr9	136,127,800	136,133,620
nsv5924166	Remapped	Good	GRCh37.p13	PATCHES	First Pass	NW_003315925.1	Chr9\|NW_00 3315925.1	78,372	84,323

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17448639	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17448639	Submitted genomic		NC_000009.12:g.133 252413_133258229de l	GRCh38 (hg38)		NC_000009.12	Chr9	133,252,413	133,258,229
nssv17448639	Remapped	Good	NW_003315925.1:g.7 8372_84323del	GRCh37.p13	First Pass	NW_003315925.1	Chr9\|NW_00 3315925.1	78,372	84,323
nssv17448639	Remapped	Good	NC_000009.11:g.136 127800_136133620de l	GRCh37.p13	Second Pass	NC_000009.11	Chr9	136,127,800	136,133,620

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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