A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18062372



Internal ID20629412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56871928..56872454hg38UCSC Ensembl
chr1:57337601..57338127hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330611
Supporting Variants
Samples
Known GenesC8A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18062372
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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