A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623735



Internal ID15822308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51675549..51701749hg38UCSC Ensembl
Outerchr18:49201919..49228119hg19UCSC Ensembl
Outerchr18:47455917..47482117hg18UCSC Ensembl
Outerchr18:47455917..47482117hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383428
hg193428
hg183428
hg173428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509696
Supporting Variants
SamplesNA18994
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)nssv623735
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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