A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509740



Internal ID15477238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36970878..37041708hg38UCSC Ensembl
Outerchr19:37461780..37532610hg19UCSC Ensembl
Outerchr19:42153620..42224450hg18UCSC Ensembl
Outerchr19:42153620..42224450hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg383411
hg193411
hg183411
hg173411
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623758
SamplesNA18994
Known GenesZNF568
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)nsv509740
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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