A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341162



Internal ID20998715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199950224..199955446hg38UCSC Ensembl
chr2:200814947..200820169hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385223
hg195223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083963
Samples
Known GenesC2orf47, TYW5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341162
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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