A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619761



Internal ID15818342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2072311..2130749hg38UCSC Ensembl
Outerchr1:2003750..2062188hg19UCSC Ensembl
Outerchr1:1993610..2052048hg18UCSC Ensembl
Outerchr1:2035912..2094350hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383424
hg193424
hg183424
hg173424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509479
Supporting Variants
SamplesNA10860
Known GenesPRKCZ
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)nssv619761
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