A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5413



Internal ID15543845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30766845..30800312hg38UCSC Ensembl
Outerchr12:30919779..30953246hg19UCSC Ensembl
Outerchr12:30811046..30844513hg18UCSC Ensembl
Outerchr12:30811046..30844513hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385800
hg195800
hg185800
hg175800
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv657
Supporting Variants
SamplesNA19129
Known GenesLINC00941
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)nssv5413
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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