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dbVar

Database of genomic structural variation

nsv5894113

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:208

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: 96 SVs from 31 studies. See in: genome view

Submitted genomic38,701,175-38,701,382

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5894113	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	38,701,175	38,701,382
nsv5894113	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	38,668,951	38,669,158

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17448417	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17448417	Submitted genomic		NC_000006.12:g.387 01175_38701382dup	GRCh38 (hg38)		NC_000006.12	Chr6	38,701,175	38,701,382
nssv17448417	Remapped	Perfect	NC_000006.11:g.386 68951_38669158dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	38,668,951	38,669,158

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)
nssv17448417	0.001	1	1070

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