A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527177



Internal ID303282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2788944..2795644hg38UCSC Ensembl
chr18:2788942..2795642hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715198
Samples
Known GenesSMCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527177
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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