A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623744



Internal ID15475631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3077662..3143281hg38UCSC Ensembl
Outerchr19:3077660..3143279hg19UCSC Ensembl
Outerchr19:3028660..3094279hg18UCSC Ensembl
Outerchr19:3028660..3094279hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385418
hg195418
hg185418
hg175418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509716
Supporting Variants
SamplesNA18994
Known GenesGNA11, GNA15
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)nssv623744
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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