A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961615



Internal ID18596861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94830616..94831576hg38UCSC Ensembl
Innerchr2:95496361..95497321hg19UCSC Ensembl
Innerchr2:94860088..94861048hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38961
hg19961
hg18961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2666756, nssv2666755, nssv2666717, nssv2666751, nssv2666759, nssv2666719, nssv2666720, nssv2666726, nssv2666752, nssv2666754, nssv2666753, nssv2666724, nssv2666758, nssv2666750, nssv2666721, nssv2666723, nssv2666722, nssv2666757, nssv2666718, nssv2666725
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961615
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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