A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508974



Internal ID15476472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186601458..186701401hg38UCSC Ensembl
Outerchr3:186319247..186419190hg19UCSC Ensembl
Outerchr3:187801941..187901884hg18UCSC Ensembl
Outerchr3:187801949..187901892hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg385700
hg195700
hg185700
hg175700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619350
SamplesNA10860
Known GenesAHSG, FETUB, HRG
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)nsv508974
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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