A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4880



Internal ID15549634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75184888..75220114hg38UCSC Ensembl
Outerchr5:74480713..74515939hg19UCSC Ensembl
Outerchr5:74516469..74551695hg18UCSC Ensembl
Outerchr5:74516469..74551695hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384517
hg194517
hg184517
hg174517
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3359
SamplesNA12878
Known GenesANKRD31
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)nsv4880
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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