A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998599



Internal ID20565639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29530224..29530375hg38UCSC Ensembl
chr12:29683157..29683308hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467018
Supporting Variants
Samples
Known GenesTMTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998599
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00335


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