A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201297



Internal ID20768337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247513101..247536800hg38UCSC Ensembl
chr1:247676403..247700102hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3823700
hg1923700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326361
Supporting Variants
Samples
Known GenesGCSAML, GCSAML-AS1, OR2C3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201297
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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