A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998601



Internal ID20565641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29538625..29539343hg38UCSC Ensembl
chr12:29691558..29692276hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464432
Supporting Variants
Samples
Known GenesTMTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998601
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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