A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203056



Internal ID20770096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37854930..37871768hg38UCSC Ensembl
chr1:38320602..38337440hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3816839
hg1916839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316018
Supporting Variants
Samples
Known GenesINPP5B, MTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203056
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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