A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444



Internal ID15549154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102647927..102669267hg38UCSC Ensembl
Outerchr4:103569084..103590424hg19UCSC Ensembl
Outerchr4:103788132..103809472hg18UCSC Ensembl
Outerchr4:103926287..103947627hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg386831
hg196831
hg186831
hg176831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3272
SamplesNA12878
Known GenesMANBA
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)nsv4444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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