A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4144



Internal ID15548824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183504452..183550288hg38UCSC Ensembl
Outerchr3:183222240..183268076hg19UCSC Ensembl
Outerchr3:184704934..184750770hg18UCSC Ensembl
Outerchr3:184704942..184750778hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3845837
hg1945837
hg1845837
hg1745837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7054
SamplesNA12156
Known GenesKLHL6
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)nsv4144
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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