A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377202



Internal ID22435072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52040770..52041071hg38UCSC Ensembl
chr1:52506442..52506743hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885860
Supporting Variants
Samples
Known GenesTXNDC12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377202
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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