A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061279



Internal ID20628319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48177335..48224333hg38UCSC Ensembl
chr1:48643007..48690005hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3846999
hg1946999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325938
Supporting Variants
Samples
Known GenesSKINTL, SLC5A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061279
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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