A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966



Internal ID15552987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:57420323..57450085hg38UCSC Ensembl
Outerchr1:57885995..57915757hg19UCSC Ensembl
Outerchr1:57658583..57688345hg18UCSC Ensembl
Outerchr1:57598016..57627778hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg389509
hg199509
hg189509
hg179509
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5589
SamplesNA19129
Known GenesDAB1
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)nsv966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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