A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404660



Internal ID22462530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9406008..9406507hg38UCSC Ensembl
chr2:9546137..9546636hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880981
Supporting Variants
Samples
Known GenesITGB1BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404660
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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