A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323003



Internal ID20856118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160083701..160085300hg38UCSC Ensembl
chr1:160053491..160055090hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200972
Samples
Known GenesKCNJ9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323003
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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