A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115634



Internal ID19284859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:21172501..21176379hg38UCSC Ensembl
Outerchr13:21746640..21750518hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg383879
hg193879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977443
SamplesKWS1
Known GenesMRP63, SKA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115634
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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