A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3999



Internal ID15548664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196748345..196951930hg38UCSC Ensembl
Outerchr1:196717475..196921060hg19UCSC Ensembl
Outerchr1:194984098..195187683hg18UCSC Ensembl
Outerchr1:193449132..193652717hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38203586
hg19203586
hg18203586
hg17203586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2644, nssv9383, nssv6046, nssv4885, nssv10420, nssv9650
SamplesNA18507, NA12156, NA18956, NA18555, NA18517, NA19129
Known GenesCFHR1, CFHR2, CFHR3, CFHR4
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)nsv3999
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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