A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320247



Internal ID20853345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244522001..244524600hg38UCSC Ensembl
chr1:244685303..244687902hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200660
Samples
Known GenesC1orf101
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320247
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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