A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961617



Internal ID18596863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94860768..94880607hg38UCSC Ensembl
Innerchr2:95526513..95546352hg19UCSC Ensembl
Innerchr2:94890240..94910079hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3819840
hg1919840
hg1819840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2667570, nssv2667564, nssv2667569, nssv2667566, nssv2667562, nssv2667563, nssv2667568, nssv2667567, nssv2667571, nssv2667565
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC442028, TEKT4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961617
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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