A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2078403



Internal ID17865248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15592189..15623755hg38UCSC Ensembl
Innerchr17:15495503..15527069hg19UCSC Ensembl
Innerchr17:15436228..15467794hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3831567
hg1931567
hg1831567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960420
Supporting Variants
SamplesHGDP01284
Known GenesCDRT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2078403
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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