A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2092



Internal ID15546655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:53349997..53379332hg38UCSC Ensembl
Outerchr17:51427358..51456693hg19UCSC Ensembl
Outerchr17:48782357..48811692hg18UCSC Ensembl
Outerchr17:48782357..48811692hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3829336
hg1929336
hg1829336
hg1729336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10127
SamplesNA18956
Known Genes
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)nsv2092
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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