A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510925



Internal ID15478419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43158908..43231063hg38UCSC Ensembl
Outerchr19:43663060..43735215hg19UCSC Ensembl
Outerchr19:48354900..48427055hg18UCSC Ensembl
Outerchr19:48354900..48427055hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3872156
hg1972156
hg1872156
hg1772156
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624355
SamplesNA18994
Known GenesLOC284344, PSG4, PSG5
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)nsv510925
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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