A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5210



Internal ID15549997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:245359824..245391897hg38UCSC Ensembl
Outerchr1:245523126..245555199hg19UCSC Ensembl
Outerchr1:243589749..243621822hg18UCSC Ensembl
Outerchr1:241849167..241881240hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387946
hg197946
hg187946
hg177946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1805
SamplesNA18555
Known GenesKIF26B
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)nsv5210
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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