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dbVar

Database of genomic structural variation

nsv5898511

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:3,477

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: 109 SVs from 30 studies. See in: genome view

Submitted genomic39,179,581-39,183,057

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5898511	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	39,179,581	39,183,057
nsv5898511	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	39,179,683	39,183,159

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17414062	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17414062	Submitted genomic		NC_000005.10:g.391 79581_39183057dup	GRCh38 (hg38)		NC_000005.10	Chr5	39,179,581	39,183,057
nssv17414062	Remapped	Perfect	NC_000005.9:g.3917 9683_39183159dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	39,179,683	39,183,159

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)
nssv17414062	0.001	2	1364

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