A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948004



Internal ID18248164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50157958..50202135hg38UCSC Ensembl
Innerchr10:51917718..51961895hg19UCSC Ensembl
Innerchr10:51587724..51631901hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3844178
hg1944178
hg1844178
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1850499, nssv1850503, nssv1850506, nssv1850498, nssv1850497, nssv1850502, nssv1850501, nssv1850504, nssv1850505, nssv1850500
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesASAH2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948004
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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