A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2508845



Internal ID17808224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75302034..75304028hg38UCSC Ensembl
Innerchr8:76214269..76216263hg19UCSC Ensembl
Innerchr8:76376824..76378818hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381995
hg191995
hg181995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971668
Supporting Variants
SamplesHGDP00778
Known GenesCASC9
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)nssv2508845
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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