A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17608324



Internal ID21800371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50806756..50852960hg38UCSC Ensembl
chr12:51200539..51246743hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3846205
hg1946205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6021565
Supporting Variants
Samples
Known GenesATF1, TMPRSS12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17608324
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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