A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979712



Internal ID18882115
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 StatusS
Merged Variantsnsv1142942
Supporting Variants
SamplesKWS2
Known GenesKLK7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979712
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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