A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2514318



Internal ID17887157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96068715..96079568hg38UCSC Ensembl
Innerchr8:97080943..97091796hg19UCSC Ensembl
Innerchr8:97150119..97160972hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3810854
hg1910854
hg1810854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971339
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)nssv2514318
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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