A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062640



Internal ID21433026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209990547..209990547hg38UCSC Ensembl
chr1:210163892..210163892hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622299
Supporting Variants
SamplesHG00731
Known GenesSYT14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062640
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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