A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962



Internal ID15480721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143520203..143571604hg38UCSC Ensembl
Outerchr7:143519748..143571765hg38UCSC Ensembl
Innerchr7:143217296..143268697hg19UCSC Ensembl
Outerchr7:143216841..143268858hg19UCSC Ensembl
Innerchr7:142927418..142978819hg18UCSC Ensembl
Outerchr7:142926963..142978980hg18UCSC Ensembl
Innerchr7:142734133..142785534hg17UCSC Ensembl
Outerchr7:142733678..142785695hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3852018
hg1952018
hg1852018
hg1752018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA07029
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)nssv15962
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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