A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4392



Internal ID15549097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:75748225..75781098hg38UCSC Ensembl
Outerchr4:76673409..76702251hg19UCSC Ensembl
Outerchr4:76892433..76921275hg18UCSC Ensembl
Outerchr4:77030588..77059430hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg384764
hg194764
hg184764
hg174764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3263
SamplesNA12878
Known GenesUSO1
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)nsv4392
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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