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dbVar

Database of genomic structural variation

nsv6531069

Organism: Homo sapiens

Study:nstd223 (Sedlazeck 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:2,397

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: 80 SVs from 26 studies. See in: genome view

Submitted genomic51,594,838-51,597,234

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6531069	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,594,838	51,597,234
nsv6531069	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	52,098,091	52,100,487

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18198307	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18198307	Submitted genomic		NC_000019.10:g.515 94838_51597234dup	GRCh38 (hg38)		NC_000019.10	Chr19	51,594,838	51,597,234
nssv18198307	Remapped	Perfect	NC_000019.9:g.5209 8091_52100487dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	52,098,091	52,100,487

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)
nssv18198307	<0.001	2	39238

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