A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332918



Internal ID20866093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111114001..111301900hg38UCSC Ensembl
chr1:111656623..111844522hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38187900
hg19187900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199259
Samples
Known GenesCEPT1, CHI3L2, CHIA, CHIAP2, DENND2D, DRAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332918
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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