A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507380



Internal ID15823032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:26808108..26814108hg38UCSC Ensembl
Outerchr7:26847727..26853727hg19UCSC Ensembl
Outerchr7:26814252..26820252hg18UCSC Ensembl
Outerchr7:26620967..26626967hg17UCSC Ensembl
Cytoband7p15.2
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 Variantsnssv620370, nssv617732, nssv623000
SamplesCHM, NA15510, NA18994
Known GenesSKAP2
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)nsv507380
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