A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409400



Internal ID22467270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9998511..9998511hg38UCSC Ensembl
chr2:10138639..10138639hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952094
Supporting Variants
Samples
Known GenesGRHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409400
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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