A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2429



Internal ID15200306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18123369..18168571hg38UCSC Ensembl
Outerchr19:18234179..18279381hg19UCSC Ensembl
Outerchr19:18095179..18140381hg18UCSC Ensembl
Outerchr19:18095179..18140381hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3845203
hg1945203
hg1845203
hg1745203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7429
SamplesNA12156
Known GenesMAST3, PIK3R2
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)nsv2429
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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