A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003789



Internal ID16950055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160120363..160120753hg38UCSC Ensembl
Outerchr2:160976874..160977264hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv956646
Supporting Variants
SamplesBILGI_BIOE
Known GenesITGB6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003789
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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