A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3748



Internal ID15538476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:122319198..122351957hg38UCSC Ensembl
Outerchr9:125081477..125114236hg19UCSC Ensembl
Outerchr9:124121298..124154057hg18UCSC Ensembl
Outerchr9:122161031..122193790hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg386981
hg196981
hg186981
hg176981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6703
Supporting Variants
SamplesNA12878
Known GenesMRRF
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)nssv3748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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