A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508910



Internal ID15476408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:37645099..37717851hg38UCSC Ensembl
Outerchr3:37686590..37759342hg19UCSC Ensembl
Outerchr3:37661594..37734346hg18UCSC Ensembl
Outerchr3:37661594..37734346hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383478
hg193478
hg183478
hg173478
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621195, nssv623370
SamplesNA15510, NA18994
Known GenesITGA9
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)nsv508910
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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