A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675248



Internal ID15065214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159953169..159963346hg38UCSC Ensembl
Innerchr1:159922959..159933136hg19UCSC Ensembl
Innerchr1:158189583..158199760hg18UCSC Ensembl
Innerchr1:156736032..156746209hg17UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3810178
hg1910178
hg1810178
hg1710178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520773
Supporting Variants
Samples
Known GenesLINC01133, SLAMF9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675248
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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