A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958



Internal ID15204133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:134622955..134656805hg38UCSC Ensembl
Outerchr7:134307707..134341557hg19UCSC Ensembl
Outerchr7:133958247..133992097hg18UCSC Ensembl
Outerchr7:133764962..133798812hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg385584
hg195584
hg185584
hg175584
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8431
SamplesNA12156
Known GenesBPGM
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)nsv5958
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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