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dbVar

Database of genomic structural variation

nsv5977718

Organism: Homo sapiens

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

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

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: 381 SVs from 34 studies. See in: genome view

Submitted genomic44,592,514-44,592,514

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5977718	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	44,592,514	44,592,514
nsv5977718	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000021.8	Chr21	46,012,395	46,012,395
nsv5977718	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004775435.1	Chr21\|NW_0 04775435.1	95,837	95,837

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17390308	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17390308	Submitted genomic		NC_000021.9:g.4459 2514_44592515ins80	GRCh38 (hg38)		NC_000021.9	Chr21	44,592,514	44,592,514
nssv17390308	Remapped	Perfect	NW_004775435.1:g.9 5837_95838ins80	GRCh37.p13	First Pass	NW_004775435.1	Chr21\|NW_0 04775435.1	95,837	95,837
nssv17390308	Remapped	Perfect	NC_000021.8:g.4601 2395_46012396ins80	GRCh37.p13	Second Pass	NC_000021.8	Chr21	46,012,395	46,012,395

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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