A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405247



Internal ID22463117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7673784..7673784hg38UCSC Ensembl
chr2:7813915..7813915hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5955154
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405247
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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