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dbVar

Database of genomic structural variation

nsv5942682

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:5,402

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: 132 SVs from 29 studies. See in: genome view

Submitted genomic8,372,798-8,378,199

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5942682	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	8,372,798	8,378,199
nsv5942682	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	8,276,116	8,281,517

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17380704	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17380704	Submitted genomic		NC_000017.11:g.837 2798_8378199dup	GRCh38 (hg38)		NC_000017.11	Chr17	8,372,798	8,378,199
nssv17380704	Remapped	Perfect	NC_000017.10:g.827 6116_8281517dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	8,276,116	8,281,517

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)
nssv17380704	0.001	1	1808

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