A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4068



Internal ID15192109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46561489..46595231hg38UCSC Ensembl
Outerchr13:47135624..47169366hg19UCSC Ensembl
Outerchr13:46033625..46067367hg18UCSC Ensembl
Outerchr13:46033625..46067367hg17UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg384676
hg194676
hg184676
hg174676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1026
Supporting Variants
SamplesNA12878
Known GenesLRCH1
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)nssv4068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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