A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961516



Internal ID18250076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134964931..134977844hg38UCSC Ensembl
Innerchr2:135722501..135735414hg19UCSC Ensembl
Innerchr2:135438971..135451884hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3812914
hg1912914
hg1812914
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2205256, nssv2205261, nssv2205260, nssv2205258, nssv2205259, nssv2205264, nssv2205257, nssv2205262, nssv2205263, nssv2205265
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAP3K19
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961516
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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