A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2035



Internal ID15199912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35002602..35047830hg38UCSC Ensembl
Outerchr17:33329621..33374849hg19UCSC Ensembl
Outerchr17:30353734..30398962hg18UCSC Ensembl
Outerchr17:30353734..30398962hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3845229
hg1945229
hg1845229
hg1745229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7325
SamplesNA12156
Known GenesLIG3, RAD51L3-RFFL, RFFL
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)nsv2035
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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