A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331398



Internal ID20864561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230175660..230176802hg38UCSC Ensembl
chr1:230311406..230312548hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058587
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331398
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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