A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18076247



Internal ID20643287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127202937..127203993hg38UCSC Ensembl
chr2:127960513..127961569hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338065
Supporting Variants
Samples
Known GenesCYP27C1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18076247
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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