A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398



Internal ID15203517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248823396..248856624hg38UCSC Ensembl
Outerchr1:249117595..249150823hg19UCSC Ensembl
Outerchr1:247084218..247117446hg18UCSC Ensembl
Outerchr1:245327346..245360574hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg386053
hg196053
hg186053
hg176053
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5144
SamplesNA19129
Known GenesMIR3124, SH3BP5L, ZNF672, ZNF692
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)nsv5398
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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