A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1973



Internal ID15546536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9461147..9496976hg38UCSC Ensembl
Outerchr17:9364464..9400293hg19UCSC Ensembl
Outerchr17:9305189..9341018hg18UCSC Ensembl
Outerchr17:9305189..9341018hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385902
hg195902
hg185902
hg175902
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2164, nssv7308
SamplesNA12156, NA18555
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)nsv1973
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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