A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046557



Internal ID98848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61405500..61405551hg38UCSC Ensembl
chr11:61172972..61173023hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557883
Supporting Variants
Samples
Known GenesCPSF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046557
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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