A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961403



Internal ID18596649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46580981..46582867hg38UCSC Ensembl
Innerchr2:46808120..46810006hg19UCSC Ensembl
Innerchr2:46661624..46663510hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381887
hg191887
hg181887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2169308, nssv2169302, nssv2169301, nssv2169303, nssv2169310, nssv2169304, nssv2169305, nssv2169306, nssv2169309, nssv2169307
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPIGF, RHOQ
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961403
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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