A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999245



Internal ID19188548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173333864..173334176hg38UCSC Ensembl
Outerchr2:174198592..174198904hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152067
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999245
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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