A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16387



Internal ID15483085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143522761..143570525hg38UCSC Ensembl
Outerchr7:143520203..143571604hg38UCSC Ensembl
Innerchr7:143219854..143267618hg19UCSC Ensembl
Outerchr7:143217296..143268697hg19UCSC Ensembl
Innerchr7:142929976..142977740hg18UCSC Ensembl
Outerchr7:142927418..142978819hg18UCSC Ensembl
Innerchr7:142736691..142784455hg17UCSC Ensembl
Outerchr7:142734133..142785534hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3851402
hg1951402
hg1851402
hg1751402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA11830
Known GenesEPHA1-AS1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv16387
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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