A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974303



Internal ID18888797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:100341557..100341621hg38UCSC Ensembl
Outerchr3:100060401..100060465hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114411
Supporting Variants
SamplesKWS2
Known GenesNIT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3974303
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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