A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5683



Internal ID15197059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81256382..81282084hg38UCSC Ensembl
Outerchr17:79230182..79255884hg19UCSC Ensembl
Outerchr17:76844777..76870479hg18UCSC Ensembl
Outerchr17:76844777..76870479hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385714
hg195714
hg185714
hg175714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2161
Supporting Variants
SamplesNA19129
Known GenesSLC38A10
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)nssv5683
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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