A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1749



Internal ID15541032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:63369460..63413972hg38UCSC Ensembl
Outerchr8:64282018..64326530hg19UCSC Ensembl
Outerchr8:64444572..64489084hg18UCSC Ensembl
Outerchr8:64444572..64489084hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3844513
hg1944513
hg1844513
hg1744513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6229
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)nssv1749
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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