A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2164



Internal ID15541447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9461147..9489395hg38UCSC Ensembl
Outerchr17:9364464..9392712hg19UCSC Ensembl
Outerchr17:9305189..9333437hg18UCSC Ensembl
Outerchr17:9305189..9333437hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3811782
hg1911782
hg1811782
hg1711782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1973
Supporting Variants
SamplesNA18555
Known GenesSTX8
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)nssv2164
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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