A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947762



Internal ID18594609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:19919501..19921377hg38UCSC Ensembl
Innerchr10:20208430..20210306hg19UCSC Ensembl
Innerchr10:20248436..20250312hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg381877
hg191877
hg181877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1835463, nssv1835470, nssv1835469, nssv1835466, nssv1835462, nssv1835467, nssv1835464, nssv1835468, nssv1835461, nssv1835465
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPLXDC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947762
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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