A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508481



Internal ID15480157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:130194801..130271427hg38UCSC Ensembl
Outerchr7:129834641..129911267hg19UCSC Ensembl
Outerchr7:129621877..129698503hg18UCSC Ensembl
Outerchr7:129428592..129505218hg17UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3876627
hg1976627
hg1876627
hg1776627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622587
SamplesNA18994
Known GenesCPA2, SSMEM1, TMEM209
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)nsv508481
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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