A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997347



Internal ID20564387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118880713..118886080hg38UCSC Ensembl
chr12:119318518..119323885hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg385368
hg195368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494106
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997347
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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