A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130282



Internal ID18904512
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 StatusM
Merged Variantsdgv314n106
Supporting Variantsnssv3995242, nssv3966204
SamplesKWS2, KWS1
Known GenesAKT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130282
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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