A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6600523



Internal ID20973594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99405391..99410400hg38UCSC Ensembl
chr7:99003014..99008023hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385010
hg195010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18225793
Samples
Known GenesBUD31, PDAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6600523
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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