A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757938



Internal ID20533798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50782736..50782736hg38UCSC Ensembl
chr1:51248408..51248408hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274295
Samples
Known GenesFAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757938
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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