A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113611



Internal ID21450906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73605586..73617219hg38UCSC Ensembl
chr2:73832713..73844346hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3811634
hg1911634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5574104
Supporting Variants
SamplesHG01505
Known GenesALMS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113611
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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