A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16626



Internal ID15482684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143522114..143527357hg38UCSC Ensembl
Outerchr7:143520203..143528173hg38UCSC Ensembl
Innerchr7:143219207..143224450hg19UCSC Ensembl
Outerchr7:143217296..143225266hg19UCSC Ensembl
Innerchr7:142929329..142934572hg18UCSC Ensembl
Outerchr7:142927418..142935388hg18UCSC Ensembl
Innerchr7:142736044..142741287hg17UCSC Ensembl
Outerchr7:142734133..142742103hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg387971
hg197971
hg187971
hg177971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA10863
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)nssv16626
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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