A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011100



Internal ID18753634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133142490..133288591hg38UCSC Ensembl
Innerchr2:133900062..134046163hg19UCSC Ensembl
Innerchr2:133616532..133762633hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38146102
hg19146102
hg18146102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582787
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011100
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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