A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150239



Internal ID18853256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139319487..139321910hg38UCSC Ensembl
Outerchr5:138655176..138657599hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382424
hg192424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003538
SamplesKWB1
Known GenesMATR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150239
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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