A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130346



Internal ID19252183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:47428436..47428610hg38UCSC Ensembl
Outerchr15:47720633..47720807hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1207n106
Supporting Variantsnssv3964823, nssv3964844
SamplesKWS2, KWS1
Known GenesSEMA6D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130346
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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