A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981482



Internal ID18862103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53982346..53983346hg38UCSC Ensembl
Outerchr19:54485600..54486600hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144881
Supporting Variants
SamplesKWS1
Known GenesCACNG8, MIR935
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981482
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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