A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204318



Internal ID20771358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6790036..6792205hg38UCSC Ensembl
chr1:6850096..6852265hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382170
hg192170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334937
Supporting Variants
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204318
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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