A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991295



Internal ID18883043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42133769..42133849hg38UCSC Ensembl
Outerchr19:42637921..42638001hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138707
Supporting Variants
SamplesKWS2
Known GenesLOC100505622
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991295
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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