A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480664



Internal ID22538567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170714013..170715079hg38UCSC Ensembl
chr2:171570523..171571589hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831938
Supporting Variants
Samples
Known GenesLINC01124
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480664
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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