A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3986486



Internal ID18857100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33626416..33626479hg38UCSC Ensembl
Outerchr5:33626521..33626584hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131887
Supporting Variants
SamplesKWS1
Known GenesADAMTS12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3986486
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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