A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107249



Internal ID21472469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10331920..10331981hg38UCSC Ensembl
chr2:10472046..10472107hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5567656
Supporting Variants
SamplesHG03125
Known GenesHPCAL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107249
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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