A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451506



Internal ID22509378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178856426..178877433hg38UCSC Ensembl
chr1:178825561..178846568hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3821008
hg1921008
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828754
Supporting Variants
Samples
Known GenesANGPTL1, RALGPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451506
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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