A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201294



Internal ID20768334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247395130..247753305hg38UCSC Ensembl
chr1:247558432..247916607hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38358176
hg19358176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330035
Supporting Variants
Samples
Known GenesGCSAML, GCSAML-AS1, NLRP3, OR13G1, OR2B11, OR2C3, OR2G2, OR2G3, OR2W5, OR6F1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201294
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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