A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5306



Internal ID15550102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:53875351..53909515hg38UCSC Ensembl
Outerchr6:53740149..53774313hg19UCSC Ensembl
Outerchr6:53848108..53882272hg18UCSC Ensembl
Outerchr6:53848108..53882272hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg385867
hg195867
hg185867
hg175867
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2724
SamplesNA18555
Known GenesLRRC1
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)nsv5306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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