A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621097



Internal ID15820447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:87023864..87060531hg38UCSC Ensembl
Outerchr1:87489547..87526214hg19UCSC Ensembl
Outerchr1:87262135..87298802hg18UCSC Ensembl
Outerchr1:87201568..87238235hg17UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg383223
hg193223
hg183223
hg173223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509380
Supporting Variants
SamplesNA15510
Known GenesHS2ST1
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)nssv621097
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