A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140593



Internal ID19276633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179750408..179750463hg38UCSC Ensembl
Outerchr5:179177409..179177464hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992095
SamplesKWS2
Known GenesMAML1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140593
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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