A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458344



Internal ID22516226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230102978..230108111hg38UCSC Ensembl
chr1:230238725..230243858hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg385134
hg195134
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829239
Supporting Variants
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458344
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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