A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508836



Internal ID15476334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6406896..6501029hg38UCSC Ensembl
Outerchr1:6466956..6561089hg19UCSC Ensembl
Outerchr1:6389543..6483676hg18UCSC Ensembl
Outerchr1:6401222..6495355hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg383899
hg193899
hg183899
hg173899
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619766
SamplesNA10860
Known GenesESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
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)nsv508836
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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