A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509128



Internal ID15476626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33736200..33823556hg38UCSC Ensembl
Outerchr6:33703977..33791333hg19UCSC Ensembl
Outerchr6:33811955..33899311hg18UCSC Ensembl
Outerchr6:33811955..33899311hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg383423
hg193423
hg183423
hg173423
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619447
SamplesNA10860
Known GenesIP6K3, LEMD2, MLN
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)nsv509128
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