A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2864



Internal ID15541696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47636273..47647228hg38UCSC Ensembl
Outerchr11:47657825..47668780hg19UCSC Ensembl
Outerchr11:47614401..47625356hg18UCSC Ensembl
Outerchr11:47614401..47625356hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385436
hg195436
hg185436
hg175436
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv315
Supporting Variants
SamplesNA18555
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)nssv2864
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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