Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5919146

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:56

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: 80 SVs from 27 studies. See in: genome view

Submitted genomic14,002,304-14,002,359

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5919146	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	14,002,304	14,002,359
nsv5919146	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000011.9	Chr11	14,023,851	14,023,906
nsv5919146	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003871075.1	Chr11\|NW_0 03871075.1	60,388	60,443

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17360432	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17360432	Submitted genomic		NC_000011.10:g.140 02304_14002359del	GRCh38 (hg38)		NC_000011.10	Chr11	14,002,304	14,002,359
nssv17360432	Remapped	Perfect	NW_003871075.1:g.6 0388_60443del	GRCh37.p13	First Pass	NW_003871075.1	Chr11\|NW_0 03871075.1	60,388	60,443
nssv17360432	Remapped	Perfect	NC_000011.9:g.1402 3851_14023906del	GRCh37.p13	Second Pass	NC_000011.9	Chr11	14,023,851	14,023,906

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.

You are here: NCBI