A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333714



Internal ID20866894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178991652..179464149hg38UCSC Ensembl
chr1:178960787..179433284hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38472498
hg19472498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201696
Samples
Known GenesABL2, AXDND1, FAM20B, SOAT1, TOR3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333714
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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