A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4499



Internal ID15192540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110148781..110180477hg38UCSC Ensembl
Outerchr1:110691403..110723099hg19UCSC Ensembl
Outerchr1:110492926..110524622hg18UCSC Ensembl
Outerchr1:110403445..110435141hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg388047
hg198047
hg188047
hg178047
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2354
Supporting Variants
SamplesNA12878
Known GenesSLC6A17
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)nssv4499
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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