A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508732



Internal ID15480408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38096355..38180191hg38UCSC Ensembl
Outerchr22:38492362..38576198hg19UCSC Ensembl
Outerchr22:36822308..36906144hg18UCSC Ensembl
Outerchr22:36816862..36900698hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg387566
hg197566
hg187566
hg177566
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623848
SamplesNA18994
Known GenesBAIAP2L2, PLA2G6
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)nsv508732
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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