A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1019



Internal ID15544737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71898560..71916281hg38UCSC Ensembl
Outerchr11:71609606..71627327hg19UCSC Ensembl
Outerchr11:71287254..71304975hg18UCSC Ensembl
Outerchr11:71287254..71304975hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3823272
hg1923272
hg1823272
hg1723272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv383
Supporting Variants
SamplesNA19240
Known GenesLOC100133315
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)nssv1019
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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