A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8227



Internal ID15188951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:242456767..242501949hg38UCSC Ensembl
Outerchr1:242620069..242665251hg19UCSC Ensembl
Outerchr1:240686692..240731874hg18UCSC Ensembl
Outerchr1:238946110..238991292hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3845183
hg1945183
hg1845183
hg1745183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5088
Supporting Variants
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)nssv8227
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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