A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17067169



Internal ID21450434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95119709..95119938hg38UCSC Ensembl
chr1:95585265..95585494hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575558
Supporting Variants
SamplesHG01505
Known GenesTMEM56, TMEM56-RWDD3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17067169
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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