A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624356



Internal ID15476243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55706887..55920460hg38UCSC Ensembl
Outerchr19:56218253..56431826hg19UCSC Ensembl
Outerchr19:60910065..61123638hg18UCSC Ensembl
Outerchr19:60910065..61123638hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38213574
hg19213574
hg18213574
hg17213574
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510927
Supporting Variants
SamplesNA18994
Known GenesNLRP11, NLRP13, NLRP4, NLRP9, RFPL4A, RFPL4AL1
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)nssv624356
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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