A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002339



Internal ID19189789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:48258011..48258381hg38UCSC Ensembl
Outerchr15:48550208..48550578hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153682
Supporting Variants
SamplesKWB1
Known GenesSLC12A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002339
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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