A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508774



Internal ID15824801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53333454..53355160hg38UCSC Ensembl
OuterchrX:53362659..53382086hg19UCSC Ensembl
OuterchrX:53379384..53398811hg18UCSC Ensembl
OuterchrX:53245680..53265107hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg383561
hg193561
hg183561
hg173561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620948, nssv619589
SamplesNA15510, NA10860
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)nsv508774
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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