A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963674



Internal ID18598914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100576285..100576880hg38UCSC Ensembl
Innerchr2:101192747..101193342hg19UCSC Ensembl
Innerchr2:100559179..100559774hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2192336, nssv2192340, nssv2192337, nssv2192332, nssv2192333, nssv2192339, nssv2192335, nssv2192338, nssv2192331, nssv2192334
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDCL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963674
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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