A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508994



Internal ID15476492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7206788..7502929hg38UCSC Ensembl
Outerchr4:7208515..7504656hg19UCSC Ensembl
Outerchr4:7259416..7555556hg18UCSC Ensembl
Outerchr4:7326587..7622727hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3816984
hg1916984
hg1816984
hg1716984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623407, nssv619368
SamplesNA18994, NA10860
Known GenesMIR4274, MIR4798, PSAPL1, SORCS2
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)nsv508994
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer