A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110567



Internal ID21406580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169029711..169030037hg38UCSC Ensembl
chr2:169886221..169886547hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5574315
Supporting Variants
SamplesHG00512
Known GenesABCB11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110567
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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