Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7009275

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:251,346

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: 986 SVs from 64 studies. See in: genome view

Submitted genomic13,836,899-14,088,244

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7009275	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	13,836,899	14,088,244
nsv7009275	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	13,947,713	14,199,056

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18636515	duplication	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18636515	Submitted genomic		NC_000019.10:g.138 36899_14088244dup	GRCh38 (hg38)		NC_000019.10	Chr19	13,836,899	14,088,244
nssv18636515	Remapped	Good	NC_000019.9:g.1394 7713_14199056dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	13,947,713	14,199,056

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)
nssv18636515	4e-06	1	275072

You are here: NCBI