A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508479



Internal ID15480155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:123551811..123612091hg38UCSC Ensembl
Outerchr7:123191865..123252145hg19UCSC Ensembl
Outerchr7:122979101..123039381hg18UCSC Ensembl
Outerchr7:122785816..122846096hg17UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3860281
hg1960281
hg1860281
hg1760281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622585
SamplesNA18994
Known GenesASB15, NDUFA5
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)nsv508479
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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