A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2495877



Internal ID17526246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12004298..12139302hg38UCSC Ensembl
Innerchr8:11861807..11996811hg19UCSC Ensembl
Innerchr8:11899216..12034220hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38135005
hg19135005
hg18135005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967564
Supporting Variants
SamplesHGDP01284
Known GenesDEFB130, FAM66D, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D
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)nssv2495877
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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