A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5805



Internal ID15550651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:79147030..79177495hg38UCSC Ensembl
Outerchr7:78776346..78806811hg19UCSC Ensembl
Outerchr7:78614282..78644747hg18UCSC Ensembl
Outerchr7:78420997..78451462hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg389415
hg199415
hg189415
hg179415
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11149
SamplesNA15510
Known GenesMAGI2
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)nsv5805
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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