A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1754



Internal ID15541037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:74444219..74466572hg38UCSC Ensembl
Outerchr8:75356454..75378807hg19UCSC Ensembl
Outerchr8:75519009..75541362hg18UCSC Ensembl
Outerchr8:75519009..75541362hg17UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3822354
hg1922354
hg1822354
hg1722354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6261
Supporting Variants
SamplesNA18555
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv1754
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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