A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4903



Internal ID15202973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:83440906..83474949hg38UCSC Ensembl
Outerchr5:82736725..82770768hg19UCSC Ensembl
Outerchr5:82772481..82806524hg18UCSC Ensembl
Outerchr5:82772481..82806524hg17UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg385676
hg195676
hg185676
hg175676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3364
SamplesNA12878
Known GenesVCAN
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)nsv4903
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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