A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618680



Internal ID15469800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7030181..7040574hg38UCSC Ensembl
Outerchr19:7030192..7040585hg19UCSC Ensembl
Outerchr19:6981192..6991585hg18UCSC Ensembl
Outerchr19:6981192..6991585hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810394
hg1910394
hg1810394
hg1710394
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510880
Supporting Variants
SamplesCHM
Known GenesMBD3L4, MBD3L5
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)nssv618680
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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