A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2095178



Internal ID17835889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36569847..36576003hg38UCSC Ensembl
Innerchr17:34925686..34931848hg19UCSC Ensembl
Innerchr17:31999799..32005961hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386157
hg196163
hg186163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978416
Supporting Variants
SamplesHGDP00998
Known GenesGGNBP2
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)nssv2095178
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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