A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750823



Internal ID20526683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75595175..75595175hg38UCSC Ensembl
chr7:75224493..75224493hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269273
Samples
Known GenesHIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750823
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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