A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2030557



Internal ID17733342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:70795152..70797080hg38UCSC Ensembl
Innerchr15:71087491..71089419hg19UCSC Ensembl
Innerchr15:68874545..68876473hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381929
hg191929
hg181929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977730
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2030557
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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