A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138367



Internal ID19262079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:48258064..48258384hg38UCSC Ensembl
Outerchr15:48550261..48550581hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970956, nssv3971940
SamplesKWS2, KWS1
Known GenesSLC12A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138367
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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