A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508329



Internal ID15824356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166753309..166772583hg38UCSC Ensembl
Outerchr4:167674460..167693734hg19UCSC Ensembl
Outerchr4:167911035..167930309hg18UCSC Ensembl
Outerchr4:168049190..168068464hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3819275
hg1919275
hg1819275
hg1719275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617501, nssv619948, nssv622506
SamplesCHM, NA15510, NA18994
Known GenesSPOCK3
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)nsv508329
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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