A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200504



Internal ID20767544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154315576..154327585hg38UCSC Ensembl
chr1:154288052..154300061hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3812010
hg1912010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335478
Supporting Variants
Samples
Known GenesAQP10, ATP8B2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200504
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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