A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18145181



Internal ID20712221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75095467..75096895hg38UCSC Ensembl
chr6:75805183..75806611hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381429
hg191429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400665
Supporting Variants
Samples
Known GenesCOL12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18145181
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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