A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509318



Internal ID15825344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:113038352..113093448hg38UCSC Ensembl
Outerchr9:115800632..115855728hg19UCSC Ensembl
Outerchr9:114840453..114895549hg18UCSC Ensembl
Outerchr9:112880187..112935282hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3820964
hg1920964
hg1820964
hg1720964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619559, nssv623563
SamplesNA18994, NA10860
Known GenesZFP37
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)nsv509318
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