A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508239



Internal ID15824266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125336522..125340657hg38UCSC Ensembl
Outerchr3:125055366..125059501hg19UCSC Ensembl
Outerchr3:126538056..126542191hg18UCSC Ensembl
Outerchr3:126538056..126542191hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384136
hg194136
hg184136
hg174136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618718
SamplesNA10860
Known GenesZNF148
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)nsv508239
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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