A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994588



Internal ID18862371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78978700..78980600hg38UCSC Ensembl
Outerchr18:76738700..76740600hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143887
Supporting Variants
SamplesKWS1
Known GenesSALL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994588
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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