A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2217749



Internal ID17753104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201824255..201826541hg38UCSC Ensembl
Innerchr2:202688978..202691264hg19UCSC Ensembl
Innerchr2:202397223..202399509hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382287
hg192287
hg182287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979165
Supporting Variants
SamplesHGDP00521
Known GenesCDK15
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)nssv2217749
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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