A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203660



Internal ID20770700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6235201..6237400hg38UCSC Ensembl
chr1:6295261..6297460hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317477
Supporting Variants
Samples
Known GenesICMT, LINC00337
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203660
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00014


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