A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16271139



Internal ID20480357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186176976..186177109hg38UCSC Ensembl
chr1:186146108..186146241hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4735318
Supporting Variants
Samples
Known GenesHMCN1, MIR548F1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16271139
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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