A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330737



Internal ID20863895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227271801..227280200hg38UCSC Ensembl
chr1:227459502..227467901hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202718
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330737
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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