A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6593



Internal ID15551518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:85585829..85612067hg38UCSC Ensembl
Outerchr9:88200744..88226982hg19UCSC Ensembl
Outerchr9:87390564..87416802hg18UCSC Ensembl
Outerchr9:85430298..85456536hg17UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg386036
hg196036
hg186036
hg176036
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8624
SamplesNA12156
Known GenesAGTPBP1
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)nsv6593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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