A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129919



Internal ID18916084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49377268..49379734hg38UCSC Ensembl
Outerchr13:49951404..49953870hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382467
hg192467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv969n106
Supporting Variantsnssv3965056
SamplesKWS2
Known GenesCAB39L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129919
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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