A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2078637



Internal ID17865660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:12010377..12012080hg38UCSC Ensembl
Innerchr17:11913694..11915397hg19UCSC Ensembl
Innerchr17:11854419..11856122hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381704
hg191704
hg181704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960054
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2078637
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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