A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2438657



Internal ID17808985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23365455..23366065hg38UCSC Ensembl
Innerchr7:23405074..23405684hg19UCSC Ensembl
Innerchr7:23371599..23372209hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38611
hg19611
hg18611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970805
Supporting Variants
SamplesHGDP00778
Known GenesIGF2BP3
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)nssv2438657
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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