A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623289



Internal ID15821862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:200141645..200147645hg38UCSC Ensembl
Outerchr1:200110773..200116773hg19UCSC Ensembl
Outerchr1:198377396..198383396hg18UCSC Ensembl
Outerchr1:196842430..196848430hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv506972
Supporting Variants
SamplesNA18994
Known GenesNR5A2
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)nssv623289
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer