A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7645



Internal ID15205989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3297543..3332623hg38UCSC Ensembl
Outerchr1:3214107..3249187hg19UCSC Ensembl
Outerchr1:3203967..3239047hg18UCSC Ensembl
Outerchr1:3237264..3272344hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg384660
hg194660
hg184660
hg174660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4419
SamplesNA12878
Known GenesPRDM16
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)nsv7645
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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