A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509260



Internal ID15476758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30348518..30405980hg38UCSC Ensembl
Outerchr8:30206034..30263496hg19UCSC Ensembl
Outerchr8:30325576..30383038hg18UCSC Ensembl
Outerchr8:30325576..30383038hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383183
hg193183
hg183183
hg173183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623533, nssv620905
SamplesNA15510, NA18994
Known GenesRBPMS, RBPMS-AS1
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)nsv509260
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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