A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495235



Internal ID21152788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122582127..122928683hg38UCSC Ensembl
chr12:123066674..123413230hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38346557
hg19346557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998718
Samples
Known GenesABCB9, CCDC62, DENR, HCAR1, HCAR2, HCAR3, HIP1R, KNTC1, VPS37B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495235
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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