A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17157544



Internal ID21476591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112445080..112445080hg38UCSC Ensembl
chr7:112085135..112085135hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg382237
hg192237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5632164
Supporting Variants
SamplesHG03486
Known GenesIFRD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17157544
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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