A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967244



Internal ID18879691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49101443..49102143hg38UCSC Ensembl
Outerchr19:49604700..49605400hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112747
Supporting Variants
SamplesKWS2
Known GenesSNRNP70
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967244
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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