A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000746



Internal ID19192442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:51419302..51422103hg38UCSC Ensembl
Outerchr15:51711499..51714300hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg382802
hg192802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149445
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000746
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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