A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2507073



Internal ID17746067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67181438..67189879hg38UCSC Ensembl
Innerchr8:68093673..68102114hg19UCSC Ensembl
Innerchr8:68256227..68264668hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg388442
hg198442
hg188442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971660
Supporting Variants
SamplesHGDP00521
Known GenesCSPP1
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)nssv2507073
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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