A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201390



Internal ID20768430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4701076..4848334hg38UCSC Ensembl
chr1:4761136..4908394hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38147259
hg19147259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332126
Supporting Variants
Samples
Known GenesAJAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201390
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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