A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2105790



Internal ID17491965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60377020..60381699hg38UCSC Ensembl
Innerchr17:58454381..58459060hg19UCSC Ensembl
Innerchr17:55809163..55813842hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg384680
hg194680
hg184680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962354
Supporting Variants
SamplesHGDP00998
Known GenesUSP32
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)nssv2105790
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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