A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15768



Internal ID15489711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16528581..16879017hg38UCSC Ensembl
Outerchr1:16528036..16879739hg38UCSC Ensembl
Innerchr1:16855076..17205512hg19UCSC Ensembl
Outerchr1:16854531..17206234hg19UCSC Ensembl
Innerchr1:16727663..17078099hg18UCSC Ensembl
Outerchr1:16727118..17078821hg18UCSC Ensembl
Innerchr1:16600382..16950818hg17UCSC Ensembl
Outerchr1:16599837..16951540hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38351704
hg19351704
hg18351704
hg17351704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18564
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
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)nssv15768
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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