A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2090929



Internal ID17751752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31562716..31564702hg38UCSC Ensembl
Innerchr17:29889735..29891721hg19UCSC Ensembl
Innerchr17:26913848..26915834hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381987
hg191987
hg181987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960090
Supporting Variants
SamplesHGDP00521
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)nssv2090929
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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