A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961536



Internal ID18250096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178654592..178663259hg38UCSC Ensembl
Innerchr2:179519319..179527986hg19UCSC Ensembl
Innerchr2:179227564..179236231hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg388668
hg198668
hg188668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2214476, nssv2214471, nssv2214477, nssv2214474, nssv2214473, nssv2214479, nssv2214470, nssv2214475, nssv2214472, nssv2214478
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR548N, TTN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961536
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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