A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990940



Internal ID18862297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94773920..94774249hg38UCSC Ensembl
Outerchr5:94109625..94109954hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112100
Supporting Variants
SamplesKWS1
Known GenesMCTP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990940
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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