A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508471



Internal ID15480147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109674379..109692838hg38UCSC Ensembl
Outerchr1:110217001..110235460hg19UCSC Ensembl
Outerchr1:110018524..110036983hg18UCSC Ensembl
Outerchr1:109929043..109947502hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3818460
hg1918460
hg1818460
hg1718460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618981, nssv620139
SamplesNA15510, NA10860
Known GenesGSTM1, GSTM2
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)nsv508471
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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