A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510951



Internal ID8793887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109609274..109692838hg38UCSC Ensembl
Outerchr1:110151896..110235460hg19UCSC Ensembl
Outerchr1:109953419..110036983hg18UCSC Ensembl
Outerchr1:109863938..109947502hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3883565
hg1983565
hg1883565
hg1783565
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618666
SamplesCHM
Known GenesAMPD2, GNAT2, GSTM1, GSTM2, GSTM4
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)nsv510951
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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