A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961880



Internal ID18597126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130011277..130038582hg38UCSC Ensembl
Innerchr2:130768850..130796155hg19UCSC Ensembl
Innerchr2:130485320..130512625hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3827306
hg1927306
hg1827306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2201518, nssv2201525, nssv2201519, nssv2201516, nssv2201521, nssv2201522, nssv2201520, nssv2201517, nssv2201523, nssv2201524
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAR2P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961880
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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