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dbVar

Database of genomic structural variation

nsv5521703

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:70

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: 103 SVs from 36 studies. See in: genome view

Submitted genomic49,867,632-49,867,701

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5521703	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	49,867,632	49,867,701
nsv5521703	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	50,370,889	50,370,958

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17724049	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17724049	Submitted genomic		NC_000019.10:g.498 67632_49867701dup	GRCh38 (hg38)		NC_000019.10	Chr19	49,867,632	49,867,701
nssv17724049	Remapped	Perfect	NC_000019.9:g.5037 0889_50370958dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	50,370,889	50,370,958

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)
nssv17724049	0.419	2519	6016

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