A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6396



Internal ID15551301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129902618..129921784hg38UCSC Ensembl
Outerchr8:130914864..130934030hg19UCSC Ensembl
Outerchr8:130984046..131003212hg18UCSC Ensembl
Outerchr8:130984046..131003212hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386558
hg196558
hg186558
hg176558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8558
SamplesNA12156
Known GenesFAM49B
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)nsv6396
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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