A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511009



Internal ID15827031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:194533347..194547979hg38UCSC Ensembl
Outerchr1:194502477..194517109hg19UCSC Ensembl
Outerchr1:192769100..192783732hg18UCSC Ensembl
Outerchr1:191234134..191248766hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3814633
hg1914633
hg1814633
hg1714633
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622428
SamplesNA10860
Known Genes
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)nsv511009
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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