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dbVar

Database of genomic structural variation

nsv5938284

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:3,513

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: 159 SVs from 43 studies. See in: genome view

Submitted genomic41,803,700-41,807,212

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5938284	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	41,803,700	41,807,212
nsv5938284	Remapped	Good	GRCh37.p13	Primary Assembly	Second Pass	NC_000019.9	Chr19	42,307,802	42,311,244
nsv5938284	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004775434.1	Chr19\|NW_0 04775434.1	372,739	376,251

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17399877	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17399877	Submitted genomic		NC_000019.10:g.418 03700_41807212del	GRCh38 (hg38)		NC_000019.10	Chr19	41,803,700	41,807,212
nssv17399877	Remapped	Perfect	NW_004775434.1:g.3 72739_376251del	GRCh37.p13	First Pass	NW_004775434.1	Chr19\|NW_0 04775434.1	372,739	376,251
nssv17399877	Remapped	Good	NC_000019.9:g.4230 7802_42311244del	GRCh37.p13	Second Pass	NC_000019.9	Chr19	42,307,802	42,311,244

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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