A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508956



Internal ID15476454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134808988..134822762hg38UCSC Ensembl
Outerchr3:134527830..134541604hg19UCSC Ensembl
Outerchr3:136010520..136024294hg18UCSC Ensembl
Outerchr3:136010528..136024302hg17UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg383502
hg193502
hg183502
hg173502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623386
SamplesNA18994
Known GenesEPHB1
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)nsv508956
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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