A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619024



Internal ID15472142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39873227..39957952hg38UCSC Ensembl
Outerchr22:40269231..40353956hg19UCSC Ensembl
Outerchr22:38599177..38683902hg18UCSC Ensembl
Outerchr22:38593731..38678456hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3884726
hg1984726
hg1884726
hg1784726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510808
Supporting Variants
SamplesNA10860
Known GenesENTHD1, GRAP2
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)nssv619024
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer