A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4671



Internal ID15202718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:81323..108807hg38UCSC Ensembl
Outerchr5:81438..108922hg19UCSC Ensembl
Outerchr5:134438..161922hg18UCSC Ensembl
Outerchr5:134438..161922hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387047
hg197047
hg187047
hg177047
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4814
SamplesNA19129
Known Genes
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)nsv4671
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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