A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121196



Internal ID18924791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49875293..49875365hg38UCSC Ensembl
Outerchr19:50378550..50378622hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955836, nssv3966315
SamplesKWS1, KWS2
Known GenesAKT1S1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121196
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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