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dbVar

Database of genomic structural variation

nsv5947283

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:166

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

Submitted genomic131,340-131,505

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5947283	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	131,340	131,505
nsv5947283	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	181,339	181,504

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17389362	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17389362	Submitted genomic		NC_000016.10:g.131 340_131505del	GRCh38 (hg38)		NC_000016.10	Chr16	131,340	131,505
nssv17389362	Remapped	Perfect	NC_000016.9:g.1813 39_181504del	GRCh37.p13	First Pass	NC_000016.9	Chr16	181,339	181,504

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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