A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973650



Internal ID19230312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:197566868..197566933hg38UCSC Ensembl
Outerchr2:198431592..198431657hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114162
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973650
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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