A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623407



Internal ID15475294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7206788..7317918hg38UCSC Ensembl
Outerchr4:7208515..7319645hg19UCSC Ensembl
Outerchr4:7259416..7370546hg18UCSC Ensembl
Outerchr4:7326587..7437717hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385004
hg195004
hg185004
hg175004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508994
Supporting Variants
SamplesNA18994
Known GenesMIR4798, 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)nssv623407
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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