A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17452847



Internal ID22510720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201970448..201984490hg38UCSC Ensembl
chr1:201939576..201953618hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814043
hg1914043
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828860
Supporting Variants
Samples
Known GenesRNPEP, TIMM17A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17452847
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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