A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040368



Internal ID94618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121954605..121957689hg38UCSC Ensembl
chr10:123714120..123717204hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383085
hg193085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495562
Supporting Variants
Samples
Known GenesNSMCE4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040368
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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