A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6003385



Internal ID21912728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44254679..44254799hg38UCSC Ensembl
chr7:44294278..44294398hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17572460
Samples
Known GenesCAMK2B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6003385
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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