A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2507497



Internal ID17879277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69943282..69946133hg38UCSC Ensembl
Innerchr8:70855517..70858368hg19UCSC Ensembl
Innerchr8:71018071..71020922hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg382852
hg192852
hg182852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967601
Supporting Variants
SamplesHGDP01307
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)nssv2507497
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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