A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961556



Internal ID18596802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214278890..214282404hg38UCSC Ensembl
Innerchr2:215143614..215147128hg19UCSC Ensembl
Innerchr2:214851859..214855373hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383515
hg193515
hg183515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2220064, nssv2220063, nssv2220072, nssv2220070, nssv2220066, nssv2220065, nssv2220071, nssv2220067, nssv2220069, nssv2220068
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPAG16
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961556
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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