A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508292



Internal ID15824319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79962413..79981161hg38UCSC Ensembl
Outerchr4:80883567..80902315hg19UCSC Ensembl
Outerchr4:81102591..81121339hg18UCSC Ensembl
Outerchr4:81240746..81259494hg17UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3818749
hg1918749
hg1818749
hg1718749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617491, nssv619939, nssv622492
SamplesCHM, NA15510, NA18994
Known GenesANTXR2
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)nsv508292
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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