A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2042102



Internal ID17540668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3840807..3841403hg38UCSC Ensembl
Innerchr16:3890808..3891404hg19UCSC Ensembl
Innerchr16:3830809..3831405hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38597
hg19597
hg18597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974750
Supporting Variants
SamplesHGDP01307
Known GenesCREBBP
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)nssv2042102
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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