A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961509



Internal ID18596755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130510100..130610736hg38UCSC Ensembl
Innerchr2:131267673..131368309hg19UCSC Ensembl
Innerchr2:130984143..131084779hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38100637
hg19100637
hg18100637
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2204125, nssv2204121, nssv2204120, nssv2204128, nssv2204123, nssv2204119, nssv2204124, nssv2204126, nssv2204122, nssv2204127
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCFC1, CFC1B, LOC646743, TISP43
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961509
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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