A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6458



Internal ID15537406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47630984..47651117hg38UCSC Ensembl
Outerchr11:47652536..47672669hg19UCSC Ensembl
Outerchr11:47609112..47629245hg18UCSC Ensembl
Outerchr11:47609112..47629245hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg388512
hg198512
hg188512
hg178512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv315
Supporting Variants
SamplesNA12156
Known GenesMTCH2
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)nssv6458
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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