A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623573



Internal ID15475460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137839021..137902532hg38UCSC Ensembl
Outerchr9:140733473..140796984hg19UCSC Ensembl
Outerchr9:139853294..139916805hg18UCSC Ensembl
Outerchr9:138009310..138072821hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg387406
hg197406
hg187406
hg177406
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509338
Supporting Variants
SamplesNA18994
Known GenesCACNA1B
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)nssv623573
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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