A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955018



Internal ID17303891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201281938..201284715hg38UCSC Ensembl
Outerchr2:202146661..202149438hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382778
hg192778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002990
SamplesBILGI_BIOE
Known GenesCASP8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955018
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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