A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17067247



Internal ID21435006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74758446..74758446hg38UCSC Ensembl
chr1:75224130..75224130hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608275
Supporting Variants
SamplesHG00731
Known GenesTYW3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17067247
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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