A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2108127



Internal ID17438518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63861240..63922819hg38UCSC Ensembl
Innerchr17:61938600..62000179hg19UCSC Ensembl
Innerchr17:59292332..59353911hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3861580
hg1961580
hg1861580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960135
Supporting Variants
SamplesHGDP00665
Known GenesCSH1, CSH2, CSHL1, GH1, GH2, TCAM1P
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)nssv2108127
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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