A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6335691



Internal ID20993244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48548568..48565122hg38UCSC Ensembl
chr2:48775707..48792261hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3816555
hg1916555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086038
Samples
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6335691
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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