A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001601



Internal ID19090818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133081053..133248387hg38UCSC Ensembl
Innerchr2:133838626..134005959hg19UCSC Ensembl
Innerchr2:133555096..133722429hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38167335
hg19167334
hg18167334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582786
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)nsv1001601
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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