A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623533



Internal ID15475420
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
hg383535
hg193535
hg183535
hg173535
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509260
Supporting Variants
SamplesNA18994
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)nssv623533
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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