A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2092220



Internal ID17541640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35004929..35006042hg38UCSC Ensembl
Innerchr17:33331948..33333061hg19UCSC Ensembl
Innerchr17:30356061..30357174hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381114
hg191114
hg181114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960095
Supporting Variants
SamplesHGDP01307
Known GenesLIG3
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)nssv2092220
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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