A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961845



Internal ID18250405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101273139..101276176hg38UCSC Ensembl
Innerchr2:101889601..101892638hg19UCSC Ensembl
Innerchr2:101256033..101259070hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383038
hg193038
hg183038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2191641, nssv2191649, nssv2191642, nssv2191646, nssv2191647, nssv2191648, nssv2191640, nssv2191644, nssv2191645, nssv2191643
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRNF149
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961845
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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