A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510755



Internal ID15478251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12516824..12607190hg38UCSC Ensembl
Outerchr19:12627638..12718004hg19UCSC Ensembl
Outerchr19:12488638..12579004hg18UCSC Ensembl
Outerchr19:12488638..12579004hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3890367
hg1990367
hg1890367
hg1790367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618959, nssv620116
SamplesNA15510, NA10860
Known GenesZNF490, ZNF564
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)nsv510755
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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