A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134304



Internal ID19285816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:40768342..40768421hg38UCSC Ensembl
Outerchr13:41342478..41342557hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971790
SamplesKWS2
Known GenesMRPS31
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134304
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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