A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997600



Internal ID19187810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168039252..168039629hg38UCSC Ensembl
Outerchr2:168895762..168896139hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148814
Supporting Variants
SamplesKWB1
Known GenesSTK39
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997600
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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