A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508178



Internal ID15824205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169432335..169471706hg38UCSC Ensembl
Outerchr2:170288845..170328216hg19UCSC Ensembl
Outerchr2:169997091..170036462hg18UCSC Ensembl
Outerchr2:170114352..170153723hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3839372
hg1939372
hg1839372
hg1739372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620197
SamplesNA15510
Known Genes
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)nsv508178
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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