A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623405



Internal ID15475292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:527899..587274hg38UCSC Ensembl
Outerchr4:521688..581063hg19UCSC Ensembl
Outerchr4:511688..571063hg18UCSC Ensembl
Outerchr4:511688..571063hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384302
hg194302
hg184302
hg174302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508986
Supporting Variants
SamplesNA18994
Known GenesPIGG
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)nssv623405
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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