A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621103



Internal ID15473767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152187656..152299397hg38UCSC Ensembl
Outerchr1:152160132..152271873hg19UCSC Ensembl
Outerchr1:150426756..150538497hg18UCSC Ensembl
Outerchr1:148973205..149084946hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386198
hg196198
hg186198
hg176198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509468
Supporting Variants
SamplesNA15510
Known GenesHRNR
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv621103
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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