A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2505965



Internal ID17787341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61576781..61581954hg38UCSC Ensembl
Innerchr8:62489340..62494513hg19UCSC Ensembl
Innerchr8:62651894..62657067hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg385174
hg195174
hg185174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967596
Supporting Variants
SamplesHGDP00665
Known GenesASPH
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)nssv2505965
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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