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dbVar

Database of genomic structural variation

nsv5923478

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:483

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: 93 SVs from 28 studies. See in: genome view

Submitted genomic18,256,295-18,256,777

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5923478	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	18,256,295	18,256,777
nsv5923478	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	18,545,224	18,545,706

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17368844	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17368844	Submitted genomic		NC_000010.11:g.182 56295_18256777dup	GRCh38 (hg38)		NC_000010.11	Chr10	18,256,295	18,256,777
nssv17368844	Remapped	Perfect	NC_000010.10:g.185 45224_18545706dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	18,545,224	18,545,706

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)
nssv17368844	0.015	26	1696

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