A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4318



Internal ID15549015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44428957..44464118hg38UCSC Ensembl
Outerchr4:44430974..44466135hg19UCSC Ensembl
Outerchr4:44125731..44160892hg18UCSC Ensembl
Outerchr4:44271902..44307063hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg384582
hg194582
hg184582
hg174582
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3252
SamplesNA12878
Known GenesKCTD8
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)nsv4318
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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