A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690618



Internal ID114284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106305228..106305296hg38UCSC Ensembl
chr12:106699006..106699074hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495148
Supporting Variants
Samples
Known GenesTCP11L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690618
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007495


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