A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17059966



Internal ID21462333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112494049..112495315hg38UCSC Ensembl
chr1:113036671..113037937hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5566673
Supporting Variants
SamplesHG02818
Known GenesWNT2B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17059966
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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