A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2064317



Internal ID17537364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:60357016..60360838hg38UCSC Ensembl
Innerchr16:60390920..60394742hg19UCSC Ensembl
Innerchr16:58948421..58952243hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383823
hg193823
hg183823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977986
Supporting Variants
SamplesHGDP01307
Known GenesLOC729159
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)nssv2064317
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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