A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6616346



Internal ID20989417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92523001..92548400hg38UCSC Ensembl
chr7:92152315..92177714hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3825400
hg1925400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18236614
Samples
Known GenesMGC16142, PEX1, RBM48
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6616346
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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