A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7638



Internal ID15552667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1067274..1111221hg38UCSC Ensembl
Outerchr11:1067274..1105129hg19UCSC Ensembl
Outerchr11:1057274..1095129hg18UCSC Ensembl
Outerchr11:1057274..1095129hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg388717
hg198717
hg188717
hg178717
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6433, nssv11247, nssv9938, nssv979, nssv10790, nssv5336, nssv3914
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA19240, NA19129
Known GenesMUC2
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)nsv7638
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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