A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462596



Internal ID21120149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6223668..6267157hg38UCSC Ensembl
chr12:6332834..6376323hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3843490
hg1943490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195548
Samples
Known GenesCD9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462596
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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