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dbVar

Database of genomic structural variation

nsv5532217

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:90

Publication(s):Byrska-Bishop et al. 2022

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: 85 SVs from 22 studies. See in: genome view

Submitted genomic2,115,875-2,115,964

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5532217	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	2,115,875	2,115,964
nsv5532217	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	2,096,521	2,096,610

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17730300	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17730300	Submitted genomic		NC_000020.11:g.211 5875_2115964dup	GRCh38 (hg38)		NC_000020.11	Chr20	2,115,875	2,115,964
nssv17730300	Remapped	Perfect	NC_000020.10:g.209 6521_2096610dup	GRCh37.p13	First Pass	NC_000020.10	Chr20	2,096,521	2,096,610

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)
nssv17730300	0.011	71	6404

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