A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11092



Internal ID15192930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150239045..150270612hg38UCSC Ensembl
Outerchr4:151160197..151191764hg19UCSC Ensembl
Outerchr4:151379647..151411214hg18UCSC Ensembl
Outerchr4:151517802..151549369hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg388315
hg198315
hg188315
hg178315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4546
Supporting Variants
SamplesNA15510
Known GenesDCLK2, LRBA
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)nssv11092
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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