A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623364



Internal ID15475251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231889469..231940618hg38UCSC Ensembl
Outerchr2:232754179..232805328hg19UCSC Ensembl
Outerchr2:232462423..232513572hg18UCSC Ensembl
Outerchr2:232579684..232630833hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384411
hg194411
hg184411
hg174411
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508892
Supporting Variants
SamplesNA18994
Known GenesMIR1471, NPPC
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)nssv623364
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