A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2389232



Internal ID17440133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179613342..179615129hg38UCSC Ensembl
Innerchr5:179040343..179042130hg19UCSC Ensembl
Innerchr5:178972949..178974736hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381788
hg191788
hg181788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968286
Supporting Variants
SamplesHGDP00665
Known GenesHNRNPH1
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)nssv2389232
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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