A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623360



Internal ID15475247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:208093562..208122330hg38UCSC Ensembl
Outerchr2:208958286..208987054hg19UCSC Ensembl
Outerchr2:208666531..208695299hg18UCSC Ensembl
Outerchr2:208783792..208812560hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385693
hg195693
hg185693
hg175693
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508882
Supporting Variants
SamplesNA18994
Known GenesCRYGD, LOC100507443
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)nssv623360
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