A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2096236



Internal ID17804443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40367995..40371593hg38UCSC Ensembl
Innerchr17:38524247..38527845hg19UCSC Ensembl
Innerchr17:35777773..35781371hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962320
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2096236
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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