A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2104714



Internal ID17473330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60236244..60249497hg38UCSC Ensembl
Innerchr17:58313605..58326858hg19UCSC Ensembl
Innerchr17:55668387..55681640hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3813254
hg1913254
hg1813254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960131
Supporting Variants
SamplesHGDP00927
Known GenesUSP32
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)nssv2104714
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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