A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2438565



Internal ID17505525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23310083..23312752hg38UCSC Ensembl
Innerchr7:23349702..23352371hg19UCSC Ensembl
Innerchr7:23316227..23318896hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg382670
hg192670
hg182670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970804
Supporting Variants
SamplesHGDP01029
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)nssv2438565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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