A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997762



Internal ID20564802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121016093..121017821hg38UCSC Ensembl
chr12:121453896..121455624hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381729
hg191729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478837
Supporting Variants
Samples
Known GenesC12orf43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997762
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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