A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6382760



Internal ID21040313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42609150..42851554hg38UCSC Ensembl
chr5:42609252..42851656hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38242405
hg19242405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214102
Samples
Known GenesCCDC152, GHR, SEPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6382760
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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