A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961802



Internal ID18597048
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2179964, nssv2179965, nssv2179969, nssv2179968, nssv2179961, nssv2179960, nssv2179966, nssv2179963, nssv2179962, nssv2179967
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRMND5A, RNF103-CHMP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961802
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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