A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3732025



Internal ID18683620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86054844..86278330hg38UCSC Ensembl
Innerchr2:86281967..86505453hg19UCSC Ensembl
Innerchr2:86135478..86358964hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38223487
hg19223487
hg18223487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007474
Supporting Variants
Samples
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3732025
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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