A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002178



Internal ID18847487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108798800..108798879hg38UCSC Ensembl
Outerchr2:109415256..109415335hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153528
Supporting Variants
SamplesKWB1
Known GenesCCDC138
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002178
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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