A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320182



Internal ID20853280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205277060..205311735hg38UCSC Ensembl
chr1:205246188..205280863hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3834676
hg1934676
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201861
Samples
Known GenesNUAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320182
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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