A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508182



Internal ID15479858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:48264259..48353795hg38UCSC Ensembl
Outerchr1:48729931..48819467hg19UCSC Ensembl
Outerchr1:48502518..48592054hg18UCSC Ensembl
Outerchr1:48441951..48531487hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3889537
hg1989537
hg1889537
hg1789537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618972
SamplesNA10860
Known GenesSPATA6
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)nsv508182
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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