A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510314



Internal ID15477812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99235519..99241519hg38UCSC Ensembl
Outerchr12:99629297..99635297hg19UCSC Ensembl
Outerchr12:98153428..98159428hg18UCSC Ensembl
Outerchr12:98131765..98137765hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618375, nssv621388, nssv622219, nssv624126
SamplesCHM, NA18994, NA15510, NA10860
Known GenesANKS1B
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)nsv510314
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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