A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508932



Internal ID15824958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:71418442..71442873hg38UCSC Ensembl
Outerchr3:71467593..71492024hg19UCSC Ensembl
Outerchr3:71550283..71574714hg18UCSC Ensembl
Outerchr3:71550283..71574714hg17UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg383862
hg193862
hg183862
hg173862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619331, nssv623374, nssv621208
SamplesNA15510, NA18994, NA10860
Known GenesFOXP1
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)nsv508932
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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