A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509017



Internal ID15825043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:146293139..146316330hg38UCSC Ensembl
Outerchr4:147214291..147237482hg19UCSC Ensembl
Outerchr4:147433741..147456932hg18UCSC Ensembl
Outerchr4:147571896..147595087hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg384861
hg194861
hg184861
hg174861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620795, nssv623418
SamplesNA15510, NA18994
Known GenesSLC10A7
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)nsv509017
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