A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624300



Internal ID15476187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141979605..142107142hg38UCSC Ensembl
Outerchr5:141359170..141486707hg19UCSC Ensembl
Outerchr5:141339354..141466891hg18UCSC Ensembl
Outerchr5:141339354..141466891hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38127538
hg19127538
hg18127538
hg17127538
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511116
Supporting Variants
SamplesNA18994
Known GenesGNPDA1, RNF14
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)nssv624300
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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