A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2096801



Internal ID17772391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44363503..44367662hg38UCSC Ensembl
Innerchr17:42440871..42445030hg19UCSC Ensembl
Innerchr17:39796397..39800556hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384160
hg194160
hg184160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978429
Supporting Variants
SamplesHGDP00542
Known GenesFAM171A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2096801
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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