A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5077



Internal ID15203164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:242278428..242323534hg38UCSC Ensembl
Outerchr1:242441730..242486836hg19UCSC Ensembl
Outerchr1:240508353..240553459hg18UCSC Ensembl
Outerchr1:238767771..238812877hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3845107
hg1945107
hg1845107
hg1745107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8221
SamplesNA12156
Known GenesPLD5
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)nsv5077
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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