A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470172



Internal ID21127725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10388401..10458200hg38UCSC Ensembl
chr12:10541000..10610799hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3869800
hg1969800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995671
Samples
Known GenesKLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470172
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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