A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2142



Internal ID15194739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54605786..54650375hg38UCSC Ensembl
Outerchr1:55071459..55116048hg19UCSC Ensembl
Outerchr1:54844047..54888636hg18UCSC Ensembl
Outerchr1:54783480..54828069hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3844590
hg1944590
hg1844590
hg1744590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv910
Supporting Variants
SamplesNA18555
Known GenesACOT11, FAM151A, MROH7, MROH7-TTC4
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)nssv2142
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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