A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142942



Internal ID18906847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50980850..50981410hg38UCSC Ensembl
Outerchr19:51484106..51484666hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979712
SamplesKWS2
Known GenesKLK7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142942
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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