A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2109



Internal ID15199986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58269462..58309378hg38UCSC Ensembl
Outerchr17:56346823..56386739hg19UCSC Ensembl
Outerchr17:53701822..53741738hg18UCSC Ensembl
Outerchr17:53701822..53741738hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3839917
hg1939917
hg1839917
hg1739917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7339
SamplesNA12156
Known GenesBZRAP1, MPO
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)nsv2109
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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