A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290201



Internal ID20499419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9998461..9998461hg38UCSC Ensembl
chr2:10138589..10138589hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4762745
Supporting Variants
Samples
Known GenesGRHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290201
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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