A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1955607



Internal ID17796581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:25162551..25165677hg38UCSC Ensembl
Innerchr13:25736689..25739815hg19UCSC Ensembl
Innerchr13:24634689..24637815hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383127
hg193127
hg183127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976097
Supporting Variants
SamplesHGDP00778
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)nssv1955607
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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