A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508825



Internal ID15476323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6221275..6286549hg38UCSC Ensembl
Outerchr1:6281335..6346609hg19UCSC Ensembl
Outerchr1:6203922..6269196hg18UCSC Ensembl
Outerchr1:6215601..6280875hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg383092
hg193092
hg183092
hg173092
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623771
SamplesNA18994
Known GenesACOT7, GPR153, HES3, ICMT, LINC00337, RNF207
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)nsv508825
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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