A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145082



Internal ID18906055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179344899..179345799hg38UCSC Ensembl
Outerchr5:178771900..178772800hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981702
SamplesKWS1
Known GenesADAMTS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145082
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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