A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356572



Internal ID22582241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210111349..210116122hg38UCSC Ensembl
chr1:210284694..210289467hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384774
hg194774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880245
Supporting Variants
Samples
Known GenesSYT14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356572
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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