A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1030



Internal ID15545141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93681656..93717044hg38UCSC Ensembl
Outerchr11:93414822..93450210hg19UCSC Ensembl
Outerchr11:93054470..93089858hg18UCSC Ensembl
Outerchr11:93054470..93089858hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg385614
hg195614
hg185614
hg175614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441
Supporting Variants
SamplesNA19240
Known GenesKIAA1731
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)nssv1030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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