A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2068953



Internal ID17455409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87856756..87864531hg38UCSC Ensembl
Innerchr16:87890362..87898137hg19UCSC Ensembl
Innerchr16:86447863..86455638hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg387776
hg197776
hg187776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984361
Supporting Variants
SamplesHGDP00778
Known GenesSLC7A5
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)nssv2068953
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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