A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4272



Internal ID15192313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46281160..46489860hg38UCSC Ensembl
Outerchr17:44358526..44567226hg19UCSC Ensembl
Outerchr17:41714303..41922542hg18UCSC Ensembl
Outerchr17:41714303..41922542hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38208701
hg19208701
hg18208240
hg17208240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2070
Supporting Variants
SamplesNA12878
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
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)nssv4272
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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