A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372751



Internal ID22598420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85277326..85277473hg38UCSC Ensembl
chr1:85743009..85743156hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870915
Supporting Variants
Samples
Known GenesLOC646626
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372751
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.019


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