A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464949



Internal ID21122502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52791200..52807638hg38UCSC Ensembl
chr12:53184984..53201422hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3816439
hg1916439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187445
Samples
Known GenesKRT3, KRT4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464949
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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