A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510964



Internal ID15478458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76492530..76555158hg38UCSC Ensembl
Outerchr7:76121847..76184475hg19UCSC Ensembl
Outerchr7:75959783..76022411hg18UCSC Ensembl
Outerchr7:75766498..75829126hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3862629
hg1962629
hg1862629
hg1762629
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618599
SamplesCHM
Known GenesDTX2, LOC100133091, UPK3B
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)nsv510964
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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