A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000580



Internal ID18840005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6174139..6176040hg38UCSC Ensembl
Outerchr1:6234199..6236100hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148543
Supporting Variants
SamplesKWB1
Known GenesCHD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000580
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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