A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469337



Internal ID21126890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101625601..101759500hg38UCSC Ensembl
chr12:102019379..102153278hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38133900
hg19133900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195973
Samples
Known GenesCHPT1, GNPTAB, MYBPC1, SYCP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469337
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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