A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144737



Internal ID21447950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117864725..117864725hg38UCSC Ensembl
chr7:117504779..117504779hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5632618
Supporting Variants
SamplesHG00732
Known GenesCTTNBP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144737
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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