A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489152



Internal ID21146705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117878485..117883004hg38UCSC Ensembl
chr12:118316290..118320809hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg384520
hg194520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997214
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489152
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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