A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699012



Internal ID15088978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125084044..125084947hg38UCSC Ensembl
Innerchr3:124802888..124803791hg19UCSC Ensembl
Innerchr3:126285578..126286481hg18UCSC Ensembl
Innerchr3:126285578..126286481hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38904
hg19904
hg18904
hg17904
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523278
Supporting Variants
Samples
Known GenesSLC12A8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699012
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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