A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18144431



Internal ID20711471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70225547..70226298hg38UCSC Ensembl
chr6:70935250..70936001hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38752
hg19752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403502
Supporting Variants
Samples
Known GenesCOL9A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18144431
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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