A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv315



Internal ID15547730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47630891..47660108hg38UCSC Ensembl
Outerchr11:47652443..47681660hg19UCSC Ensembl
Outerchr11:47609019..47638236hg18UCSC Ensembl
Outerchr11:47609019..47638236hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg388512
hg198512
hg188512
hg178512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2864, nssv3946, nssv1008, nssv10891, nssv6458
SamplesNA12156, NA12878, NA15510, NA18555, NA19240
Known GenesAGBL2, MTCH2
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)nsv315
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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