A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148175



Internal ID21503913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125036647..125036647hg38UCSC Ensembl
chr8:126048889..126048889hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5635406
Supporting Variants
SamplesNA19239
Known GenesKIAA0196
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148175
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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