A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509196



Internal ID15825222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47569245..47637055hg38UCSC Ensembl
Outerchr7:47608843..47676653hg19UCSC Ensembl
Outerchr7:47575368..47643178hg18UCSC Ensembl
Outerchr7:47382083..47449893hg17UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg383165
hg193165
hg183165
hg173165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619482
SamplesNA10860
Known GenesLOC101929086, TNS3
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)nsv509196
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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