A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348077



Internal ID21005630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231131481..231131786hg38UCSC Ensembl
chr2:231996195..231996500hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086559
Samples
Known GenesPSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348077
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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