A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18094122



Internal ID20661162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127940304..127940934hg38UCSC Ensembl
chr3:127659147..127659777hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6368554
Supporting Variants
Samples
Known GenesKBTBD12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18094122
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00062


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