A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333995



Internal ID20867176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40496501..40591900hg38UCSC Ensembl
chr1:40962173..41057572hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3895400
hg1995400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203099
Samples
Known GenesEXO5, ZNF684
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333995
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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