A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510651



Internal ID15826675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105190545..105258818hg38UCSC Ensembl
Outerchr14:105656882..105725155hg19UCSC Ensembl
Outerchr14:104727927..104796200hg18UCSC Ensembl
Outerchr14:104727927..104796200hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3868274
hg1968274
hg1868274
hg1768274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620077
SamplesNA15510
Known GenesBRF1, BTBD6
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)nsv510651
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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