A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508692



Internal ID15824719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:213135693..213157564hg38UCSC Ensembl
Outerchr1:213309036..213330907hg19UCSC Ensembl
Outerchr1:211375659..211397530hg18UCSC Ensembl
Outerchr1:209697431..209719302hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3821872
hg1921872
hg1821872
hg1721872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620148
SamplesNA15510
Known GenesRPS6KC1
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)nsv508692
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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