A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15556



Internal ID15835224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29631182..29748279hg38UCSC Ensembl
Outerchr7:29629528..29749416hg38UCSC Ensembl
Innerchr7:29670798..29787895hg19UCSC Ensembl
Outerchr7:29669144..29789032hg19UCSC Ensembl
Innerchr7:29637323..29754420hg18UCSC Ensembl
Outerchr7:29635669..29755557hg18UCSC Ensembl
Innerchr7:29444038..29561135hg17UCSC Ensembl
Outerchr7:29442384..29562272hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38119889
hg19119889
hg18119889
hg17119889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8072
Supporting Variants
SamplesNA18552
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
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)nssv15556
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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