A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6466759



Internal ID21124312
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 StatusM
Merged Variants
Supporting Variantsnssv18001981
Samples
Known GenesLOC100506844, XRCC6BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6466759
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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