A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580698



Internal ID18532293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121423564..121788408hg38UCSC Ensembl
Innerchr2:122181140..122545984hg19UCSC Ensembl
Innerchr2:121897610..122262454hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38364845
hg19364845
hg18364845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011665
Supporting Variants
Samples
Known GenesCLASP1, NIFK, NIFK-AS1, RNU4ATAC, TSN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580698
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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