A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001820



Internal ID16948086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95266753..95326752hg38UCSC Ensembl
Outerchr2:95932501..95992500hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3860000
hg1960000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953478
Supporting Variants
SamplesBILGI_BIOE
Known GenesKCNIP3, PROM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001820
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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