A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6309



Internal ID15204519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:93729557..93763774hg38UCSC Ensembl
Outerchr8:94741785..94776002hg19UCSC Ensembl
Outerchr8:94810961..94845178hg18UCSC Ensembl
Outerchr8:94810961..94845178hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386760
hg196760
hg186760
hg176760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv755
SamplesNA19240
Known GenesRBM12B, RBM12B-AS1, TMEM67
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)nsv6309
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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