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dbVar

Database of genomic structural variation

nsv6144620

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:10,001

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: 140 SVs from 28 studies. See in: genome view

Submitted genomic13,990,000-14,000,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6144620	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	13,990,000	14,000,000
nsv6144620	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	14,100,812	14,110,812

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17721642	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17721642	Submitted genomic		NC_000019.10:g.139 90000_14000000dup	GRCh38 (hg38)		NC_000019.10	Chr19	13,990,000	14,000,000
nssv17721642	Remapped	Perfect	NC_000019.9:g.1410 0812_14110812dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	14,100,812	14,110,812

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)
nssv17721642	0.002	12	5018

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