A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2098968



Internal ID17862996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45621792..45625521hg38UCSC Ensembl
Innerchr17:43699158..43702887hg19UCSC Ensembl
Innerchr17:41054941..41058670hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383730
hg193730
hg183730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960491
Supporting Variants
SamplesHGDP01284
Known GenesCRHR1, MGC57346
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2098968
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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