A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1973385



Internal ID17877486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112393438..112398753hg38UCSC Ensembl
Innerchr13:113047752..113053067hg19UCSC Ensembl
Innerchr13:112095753..112101068hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385316
hg195316
hg185316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983620
Supporting Variants
SamplesHGDP01307
Known GenesSPACA7
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)nssv1973385
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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