A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992



Internal ID15486053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43959963..44128735hg38UCSC Ensembl
Outerchr7:43956156..44207229hg38UCSC Ensembl
Innerchr7:43999562..44168334hg19UCSC Ensembl
Outerchr7:43995755..44246828hg19UCSC Ensembl
Innerchr7:43966087..44134859hg18UCSC Ensembl
Outerchr7:43962280..44213353hg18UCSC Ensembl
Innerchr7:43772802..43941574hg17UCSC Ensembl
Outerchr7:43768995..44020068hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38251074
hg19251074
hg18251074
hg17251074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8082
Supporting Variants
SamplesNA18502
Known GenesAEBP1, DBNL, GCK, LINC00957, MIR4649, MIR6837, MIR6838, MYL7, PGAM2, POLD2, POLM, POLR2J4, RASA4CP, SPDYE1, YKT6
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)nssv16992
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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