A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960212



Internal ID18595465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80013619..80027134hg38UCSC Ensembl
Innerchr17:77987418..78000933hg19UCSC Ensembl
Innerchr17:75602013..75615528hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3813516
hg1913516
hg1813516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2759737, nssv2762910, nssv2766467
SamplesHGDP00778, HGDP00456, HGDP00927
Known GenesTBC1D16
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960212
Frequency
Sample Size10
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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