A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2045165



Internal ID17803039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14957105..14976950hg38UCSC Ensembl
Innerchr16:15050962..15070807hg19UCSC Ensembl
Innerchr16:14958463..14978308hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3819846
hg1919846
hg1819846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984264
Supporting Variants
SamplesHGDP00778
Known GenesPDXDC1
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)nssv2045165
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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