A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623410



Internal ID15475297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:25414430..25548408hg38UCSC Ensembl
Outerchr4:25416052..25550030hg19UCSC Ensembl
Outerchr4:25025150..25159128hg18UCSC Ensembl
Outerchr4:25092321..25226299hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg386698
hg196698
hg186698
hg176698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509000
Supporting Variants
SamplesNA18994
Known GenesANAPC4
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)nssv623410
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