A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055707



Internal ID104972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40749548..40749804hg38UCSC Ensembl
chr12:41143350..41143606hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501680
Supporting Variants
Samples
Known GenesCNTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055707
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.205276


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