A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5244



Internal ID15203348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30577334..30622026hg38UCSC Ensembl
Outerchr6:30545111..30589803hg19UCSC Ensembl
Outerchr6:30653090..30697782hg18UCSC Ensembl
Outerchr6:30653090..30697782hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3844693
hg1944693
hg1844693
hg1744693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8228
SamplesNA12156
Known GenesABCF1, MIR877, MRPS18B, PPP1R10
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)nsv5244
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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