A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961935



Internal ID18597181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231559135..231563717hg38UCSC Ensembl
Innerchr2:232423846..232428428hg19UCSC Ensembl
Innerchr2:232132090..232136672hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384583
hg194583
hg184583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2223694, nssv2223699, nssv2223695, nssv2223697, nssv2223698, nssv2223701, nssv2223700, nssv2223703, nssv2223702, nssv2223696
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961935
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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