A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145060



Internal ID18901411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56815273..56816073hg38UCSC Ensembl
Outerchr5:56111100..56111900hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981679
SamplesKWS1
Known GenesMAP3K1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145060
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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