A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618448



Internal ID15816254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34825563..34831563hg38UCSC Ensembl
Outerchr19:35316467..35322467hg19UCSC Ensembl
Outerchr19:40008307..40014307hg18UCSC Ensembl
Outerchr19:40008307..40014307hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510474
Supporting Variants
SamplesCHM
Known GenesLOC400685
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)nssv618448
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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