A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695105



Internal ID15431757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133328093..133416461hg38UCSC Ensembl
Innerchr2:134085665..134174032hg19UCSC Ensembl
Innerchr2:133802135..133890502hg18UCSC Ensembl
Innerchr2:133919397..134007764hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3888369
hg1988368
hg1888368
hg1788368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522324
Supporting Variants
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695105
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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