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dbVar

Database of genomic structural variation

nsv5943157

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:60

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: 341 SVs from 58 studies. See in: genome view

Submitted genomic17,132,531-17,132,590

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5943157	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	17,132,531	17,132,590
nsv5943157	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	17,226,388	17,226,447

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17371079	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17371079	Submitted genomic		NC_000016.10:g.171 32531_17132590dup	GRCh38 (hg38)		NC_000016.10	Chr16	17,132,531	17,132,590
nssv17371079	Remapped	Perfect	NC_000016.9:g.1722 6388_17226447dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	17,226,388	17,226,447

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17371079	1	8	8

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