A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508287



Internal ID15824314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:72066492..72086216hg38UCSC Ensembl
Outerchr4:72932209..72951933hg19UCSC Ensembl
Outerchr4:73151073..73170797hg18UCSC Ensembl
Outerchr4:73297244..73316968hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3819725
hg1919725
hg1819725
hg1719725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618739
SamplesNA10860
Known GenesNPFFR2
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)nsv508287
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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