A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509545



Internal ID6096122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94826493..94866749hg19UCSC Ensembl
Outerchr14:93896246..93936502hg18UCSC Ensembl
Outerchr14:93896246..93936502hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg193957
hg183957
hg173957
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv619656
SamplesNA10860
Known GenesSERPINA1
Method
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)nsv509545
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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