A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508492



Internal ID15824519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155943265..155967888hg38UCSC Ensembl
Outerchr7:155735959..155760582hg19UCSC Ensembl
Outerchr7:155428720..155453343hg18UCSC Ensembl
Outerchr7:155235435..155260058hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3824624
hg1924624
hg1824624
hg1724624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620003
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)nsv508492
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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