A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2349484



Internal ID17771410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:22139391..22216677hg38UCSC Ensembl
Innerchr5:22139500..22216786hg19UCSC Ensembl
Innerchr5:22175257..22252543hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3877287
hg1977287
hg1877287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968152
Supporting Variants
SamplesHGDP00542
Known GenesCDH12, PMCHL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2349484
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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