A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv325



Internal ID15547840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:56682213..56708943hg38UCSC Ensembl
Outerchr11:56449689..56476419hg19UCSC Ensembl
Outerchr11:56206265..56232995hg18UCSC Ensembl
Outerchr11:56206265..56232995hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3811397
hg1911397
hg1811397
hg1711397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10821, nssv5359, nssv1009, nssv6460, nssv9270, nssv9944, nssv10894, nssv3952
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18517, NA19240, NA19129
Known GenesOR9G1, OR9G9
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)nsv325
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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