A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509690



Internal ID15477188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236712865..236721707hg38UCSC Ensembl
Outerchr1:236876165..236885007hg19UCSC Ensembl
Outerchr1:234942788..234951630hg18UCSC Ensembl
Outerchr1:233202206..233211048hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386314
hg196314
hg186314
hg176314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619829, nssv623816
SamplesNA18994, NA10860
Known GenesACTN2
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)nsv509690
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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