A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16379



Internal ID15843361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87035169..87051804hg38UCSC Ensembl
Outerchr7:87034696..87053132hg38UCSC Ensembl
Innerchr7:86664485..86681120hg19UCSC Ensembl
Outerchr7:86664012..86682448hg19UCSC Ensembl
Innerchr7:86502421..86519056hg18UCSC Ensembl
Outerchr7:86501948..86520384hg18UCSC Ensembl
Innerchr7:86309136..86325771hg17UCSC Ensembl
Outerchr7:86308663..86327099hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3818437
hg1918437
hg1818437
hg1718437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8171
Supporting Variants
SamplesNA19173
Known GenesKIAA1324L
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)nssv16379
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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