A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966204



Internal ID18881295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243619443..243620457hg38UCSC Ensembl
Outerchr1:243782745..243783759hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130282
Supporting Variants
SamplesKWS2
Known GenesAKT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966204
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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