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dbVar

Database of genomic structural variation

nsv5870049

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:172

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: 130 SVs from 24 studies. See in: genome view

Submitted genomic46,449,242-46,449,413

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5870049	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	46,449,242	46,449,413
nsv5870049	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	46,914,914	46,915,085

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17383752	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17383752	Submitted genomic		NC_000001.11:g.464 49242_46449413del	GRCh38 (hg38)		NC_000001.11	Chr1	46,449,242	46,449,413
nssv17383752	Remapped	Perfect	NC_000001.10:g.469 14914_46915085del	GRCh37.p13	First Pass	NC_000001.10	Chr1	46,914,914	46,915,085

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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