A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961897



Internal ID18597143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148868576..148872808hg38UCSC Ensembl
Innerchr2:149626145..149630377hg19UCSC Ensembl
Innerchr2:149342615..149346847hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg384233
hg194233
hg184233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2208449, nssv2208453, nssv2208451, nssv2208450, nssv2208447, nssv2208446, nssv2208444, nssv2208445, nssv2208448, nssv2208452
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)nsv961897
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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