A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962260



Internal ID18597504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15525048..15536664hg38UCSC Ensembl
Innerchr17:15428362..15439978hg19UCSC Ensembl
Innerchr17:15369087..15380703hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3811617
hg1911617
hg1811617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2076777, nssv2076781, nssv2076774, nssv2076780, nssv2076782, nssv2076775, nssv2076776, nssv2076783, nssv2076779, nssv2076778
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTVP23C, TVP23C-CDRT4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962260
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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