A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508140



Internal ID15824167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:41739163..41777559hg38UCSC Ensembl
Outerchr2:41966303..42004699hg19UCSC Ensembl
Outerchr2:41819807..41858203hg18UCSC Ensembl
Outerchr2:41877954..41916350hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3838397
hg1938397
hg1838397
hg1738397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617459, nssv620180
SamplesCHM, NA15510
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)nsv508140
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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