A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978367



Internal ID18613572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15442740..15445072hg38UCSC Ensembl
Innerchr17:15346054..15348386hg19UCSC Ensembl
Innerchr17:15286779..15289111hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg382333
hg192333
hg182333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2078155, nssv2078154, nssv2078153, nssv2078156, nssv2078161, nssv2078159, nssv2078160, nssv2078158, nssv2078162, nssv2078157
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCDRT4, TVP23C-CDRT4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978367
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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