A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508179



Internal ID15824206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170851894..170879493hg38UCSC Ensembl
Outerchr2:171708404..171736003hg19UCSC Ensembl
Outerchr2:171416650..171444249hg18UCSC Ensembl
Outerchr2:171533911..171561510hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3827600
hg1927600
hg1827600
hg1727600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617463
SamplesCHM
Known GenesGAD1
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)nsv508179
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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