A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2110009



Internal ID17491317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75338814..75340160hg38UCSC Ensembl
Innerchr17:73334895..73336241hg19UCSC Ensembl
Innerchr17:70846490..70847836hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381347
hg191347
hg181347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960529
Supporting Variants
SamplesHGDP00998
Known GenesGRB2
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)nssv2110009
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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