A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062764



Internal ID21469580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206524221..206524221hg38UCSC Ensembl
chr1:206697554..206697554hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611487
Supporting Variants
SamplesHG03125
Known GenesRASSF5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062764
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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