A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2046



Internal ID15199923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39023022..39084760hg38UCSC Ensembl
Outerchr17:37179275..37241013hg19UCSC Ensembl
Outerchr17:34432801..34494539hg18UCSC Ensembl
Outerchr17:34432801..34494539hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3861739
hg1961739
hg1861739
hg1761739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7327, nssv2174
SamplesNA12156, NA18555
Known GenesLOC100131347, LRRC37A11P, PLXDC1
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)nsv2046
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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