A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619362



Internal ID15471257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1623823..1680683hg38UCSC Ensembl
Outerchr4:1625550..1682410hg19UCSC Ensembl
Outerchr4:1595509..1652208hg18UCSC Ensembl
Outerchr4:1592942..1649641hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg386320
hg196320
hg186320
hg176320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508989
Supporting Variants
SamplesNA10860
Known GenesFAM53A
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)nssv619362
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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