A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139157



Internal ID19273941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30469474..30469706hg38UCSC Ensembl
Outerchr13:31043611..31043843hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv940n106
Supporting Variantsnssv3991785
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139157
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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