A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508960



Internal ID15476458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151425271..151443978hg38UCSC Ensembl
Outerchr3:151143059..151161766hg19UCSC Ensembl
Outerchr3:152625749..152644456hg18UCSC Ensembl
Outerchr3:152625757..152644464hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg385688
hg195688
hg185688
hg175688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618022, nssv623389, nssv619341, nssv620773
SamplesCHM, NA18994, NA15510, NA10860
Known GenesIGSF10, MED12L
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)nsv508960
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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