A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003254



Internal ID19193123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72569601..72574500hg38UCSC Ensembl
Outerchr6:73279299..73284200hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg384900
hg194902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153979
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003254
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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