A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324413



Internal ID20857540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111283301..111317600hg38UCSC Ensembl
chr1:111825923..111860222hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3834300
hg1934300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199264
Samples
Known GenesCHIA, CHIAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324413
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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