A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2179965



Internal ID17732218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86706291..86731198hg38UCSC Ensembl
Innerchr2:86933414..86958321hg19UCSC Ensembl
Innerchr2:86786925..86811832hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3824908
hg1924908
hg1824908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961802
Supporting Variants
SamplesHGDP00456
Known GenesRMND5A, RNF103-CHMP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2179965
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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