A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1430



Internal ID15545993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102596359..102603439hg38UCSC Ensembl
Outerchr14:103062696..103069776hg19UCSC Ensembl
Outerchr14:102132449..102139529hg18UCSC Ensembl
Outerchr14:102132449..102139529hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3826352
hg1926352
hg1826352
hg1726352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6612
SamplesNA12156
Known GenesRCOR1
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)nsv1430
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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