A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119529



Internal ID19278234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:78818192..78818255hg38UCSC Ensembl
Outerchr5:78114015..78114078hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960728
SamplesKWS1
Known GenesARSB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119529
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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