A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2651463



Internal ID17818189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16741042..16745730hg38UCSC Ensembl
Innerchr17:16644356..16649044hg19UCSC Ensembl
Innerchr17:16585081..16589769hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384689
hg194689
hg184689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978473
Supporting Variants
SamplesHGDP00927
Known GenesCCDC144A
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2651463
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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