A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2090827



Internal ID17508628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31345548..31347615hg38UCSC Ensembl
Innerchr17:29672566..29674633hg19UCSC Ensembl
Innerchr17:26696692..26698759hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382068
hg192068
hg182068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960462
Supporting Variants
SamplesHGDP01029
Known GenesNF1
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)nssv2090827
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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