A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509289



Internal ID15476787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142177835..142259277hg38UCSC Ensembl
Outerchr8:143259196..143340638hg19UCSC Ensembl
Outerchr8:143257103..143338545hg18UCSC Ensembl
Outerchr8:143257103..143338545hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387852
hg197852
hg187852
hg177852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623552, nssv619544
SamplesNA18994, NA10860
Known GenesLINC00051, TSNARE1
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)nsv509289
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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