A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3732030



Internal ID18683625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86067816..86279009hg38UCSC Ensembl
Innerchr2:86294939..86506132hg19UCSC Ensembl
Innerchr2:86148450..86359643hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38211194
hg19211194
hg18211194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009140
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)nssv3732030
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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