A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321194



Internal ID20854297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223650408..223846185hg38UCSC Ensembl
chr1:223838110..224033887hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38195778
hg19195778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18057677
Samples
Known GenesCAPN2, CAPN8, TP53BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321194
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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