A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2473822



Internal ID17878413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:121050907..121052603hg38UCSC Ensembl
Innerchr7:120690961..120692657hg19UCSC Ensembl
Innerchr7:120478197..120479893hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981572
Supporting Variants
SamplesHGDP01307
Known GenesCPED1
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)nssv2473822
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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