A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1014



Internal ID15544779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64044979..64079484hg38UCSC Ensembl
Outerchr11:63812451..63846956hg19UCSC Ensembl
Outerchr11:63569027..63603532hg18UCSC Ensembl
Outerchr11:63569027..63603532hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg386490
hg196490
hg186490
hg176490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv354
Supporting Variants
SamplesNA19240
Known GenesMACROD1
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)nssv1014
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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