A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001875



Internal ID16948141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118834225..118852524hg38UCSC Ensembl
Outerchr2:119591801..119610100hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3818300
hg1918300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954799
Supporting Variants
SamplesBILGI_BIOE
Known GenesEN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001875
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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