A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001300



Internal ID18743831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32415700..33101417hg38UCSC Ensembl
Innerchr2:32640768..33326484hg19UCSC Ensembl
Innerchr2:32494272..33179988hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38685718
hg19685717
hg18685717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3749n100
Supporting Variantsnssv3579171
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001300
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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