A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6612030



Internal ID20985101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45726201..45731600hg38UCSC Ensembl
chr7:45765800..45771199hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18229429
Samples
Known GenesSEPT7P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6612030
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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