A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060974



Internal ID21457475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155131723..155131723hg38UCSC Ensembl
chr1:155104199..155104199hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613968
Supporting Variants
SamplesHG02587
Known GenesEFNA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060974
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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