A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13709991



Internal ID21231764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203500072..203500072hg38UCSC Ensembl
chr1:203469200..203469200hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801262
Supporting Variants
Samples
Known GenesOPTC
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13709991
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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