A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203173



Internal ID20770213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9259198..9343998hg38UCSC Ensembl
chr1:9319257..9404057hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3884801
hg1984801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330408
Supporting Variants
Samples
Known GenesH6PD, SPSB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203173
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00163


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