A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001981



Internal ID20569021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57924023..58187129hg38UCSC Ensembl
chr12:58317806..58580912hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38263107
hg19263107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466759
Supporting Variants
Samples
Known GenesLOC100506844, XRCC6BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001981
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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