A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3732028



Internal ID18683623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86058821..86279009hg38UCSC Ensembl
Innerchr2:86285944..86506132hg19UCSC Ensembl
Innerchr2:86139455..86359643hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38220189
hg19220189
hg18220189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012768
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)nssv3732028
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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