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dbVar

Database of genomic structural variation

nsv5922220

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:147,943

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: 539 SVs from 76 studies. See in: genome view

Submitted genomic3,495,175-3,643,117

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5922220	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	3,495,175	3,643,117
nsv5922220	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	3,516,405	3,664,347

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17363290	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17363290	Submitted genomic		NC_000011.10:g.349 5175_3643117dup	GRCh38 (hg38)		NC_000011.10	Chr11	3,495,175	3,643,117
nssv17363290	Remapped	Perfect	NC_000011.9:g.3516 405_3664347dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	3,516,405	3,664,347

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)
nssv17363290	0.001	1	1818

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