A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4541



Internal ID8516243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:148125795..148143488hg38UCSC Ensembl
Outerchr4:149046946..149064639hg19UCSC Ensembl
Outerchr4:149266396..149284089hg18UCSC Ensembl
Outerchr4:149404551..149422244hg17UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3818960
hg1918960
hg1818960
hg1718960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9647
SamplesNA18507
Known GenesNR3C2
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)nsv4541
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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