A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1477



Internal ID15546040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:76050278..76068654hg38UCSC Ensembl
Outerchr1:76515963..76534339hg19UCSC Ensembl
Outerchr1:76288551..76306927hg18UCSC Ensembl
Outerchr1:76227984..76246360hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3818377
hg1918377
hg1818377
hg1718377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6683
SamplesNA12156
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)nsv1477
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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