A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619364



Internal ID15471259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1778232..1846590hg38UCSC Ensembl
Outerchr4:1779959..1848317hg19UCSC Ensembl
Outerchr4:1749757..1818115hg18UCSC Ensembl
Outerchr4:1747190..1815548hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384345
hg194345
hg184345
hg174345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508989
Supporting Variants
SamplesNA10860
Known GenesFGFR3, LETM1
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)nssv619364
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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