A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475901



Internal ID21133454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120642301..120710200hg38UCSC Ensembl
chr12:121080104..121148003hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3867900
hg1967900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188482
Samples
Known GenesCABP1, MLEC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475901
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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