A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16545



Internal ID15488074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144252869..144253730hg38UCSC Ensembl
Outerchr7:144252448..144254399hg38UCSC Ensembl
Innerchr7:143949962..143950823hg19UCSC Ensembl
Outerchr7:143949541..143951492hg19UCSC Ensembl
Innerchr7:143580895..143581756hg18UCSC Ensembl
Outerchr7:143580474..143582425hg18UCSC Ensembl
Innerchr7:143387610..143388471hg17UCSC Ensembl
Outerchr7:143387189..143389140hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381952
hg191952
hg181952
hg171952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18537
Known Genes
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)nssv16545
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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