A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000050



Internal ID19193518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6937454..6937567hg38UCSC Ensembl
Outerchr1:6997514..6997627hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147277
Supporting Variants
SamplesKWB1
Known GenesCAMTA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000050
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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