A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17149566



Internal ID21423121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65940644..65940644hg38UCSC Ensembl
chr5:65236472..65236472hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5638944
Supporting Variants
SamplesHG00731
Known GenesERBB2IP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17149566
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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