A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619819



Internal ID15818400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167207927..167207927hg38UCSC Ensembl
Outerchr1:167177164..167177164hg19UCSC Ensembl
Outerchr1:165443788..165443788hg18UCSC Ensembl
Outerchr1:163908822..163908822hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg386360
hg196360
hg186360
hg176360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509557
Supporting Variants
SamplesNA10860
Known Genes
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)nssv619819
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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