A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801262



Internal ID21246356
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 StatusM
Merged Variants
Supporting Variantsnssv13709991
Samples
Known GenesOPTC
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801262
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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