A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2098142



Internal ID17536276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41689571..41691161hg38UCSC Ensembl
Innerchr17:39845823..39847413hg19UCSC Ensembl
Innerchr17:37099349..37100939hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381591
hg191591
hg181591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960105
Supporting Variants
SamplesHGDP01307
Known GenesEIF1
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)nssv2098142
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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