A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960418



Internal ID18595669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15538191..15567339hg38UCSC Ensembl
Innerchr17:15441505..15470653hg19UCSC Ensembl
Innerchr17:15382230..15411378hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3829149
hg1929149
hg1829149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2076954, nssv2076960, nssv2076951, nssv2076959, nssv2076958, nssv2076952, nssv2076956, nssv2076957, nssv2076953, nssv2076955
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCDRT1, TVP23C, TVP23C-CDRT4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960418
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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