A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109753



Internal ID19277533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180015597..180015667hg38UCSC Ensembl
Outerchr5:179442597..179442667hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958093
SamplesKWS1
Known GenesRNF130
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109753
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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