A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961780



Internal ID18597026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60848013..60852977hg38UCSC Ensembl
Innerchr2:61075148..61080112hg19UCSC Ensembl
Innerchr2:60928652..60933616hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384965
hg194965
hg184965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173377, nssv2173373, nssv2173379, nssv2173374, nssv2173372, nssv2173371, nssv2173378, nssv2173380, nssv2173376, nssv2173375
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFLJ16341
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961780
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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