A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978002



Internal ID18613207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75240504..75254426hg38UCSC Ensembl
Innerchr16:75274402..75288324hg19UCSC Ensembl
Innerchr16:73831903..73845825hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3813923
hg1913923
hg1813923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2067538, nssv2067537, nssv2067529, nssv2067533, nssv2067535, nssv2067532, nssv2067531, nssv2067536, nssv2067530, nssv2067534
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBCAR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978002
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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