A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904351



Internal ID22679528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39100736..39105077hg38UCSC Ensembl
chr6:39068512..39072853hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384342
hg194342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439756
Samples
Known GenesSAYSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904351
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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