A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201363



Internal ID20768403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45659512..45716745hg38UCSC Ensembl
chr1:46125184..46182417hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3857234
hg1957234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328534
Supporting Variants
Samples
Known GenesGPBP1L1, IPP, TMEM69
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201363
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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