A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2044733



Internal ID17885160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:11926165..11947988hg38UCSC Ensembl
Innerchr16:12020022..12041845hg19UCSC Ensembl
Innerchr16:11927523..11949346hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3821824
hg1921824
hg1821824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977109
Supporting Variants
SamplesHGDP01307
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)nssv2044733
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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