A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430



Internal ID15497013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16533055..16761098hg38UCSC Ensembl
Outerchr1:16532224..16761930hg38UCSC Ensembl
Innerchr1:16859550..17087593hg19UCSC Ensembl
Outerchr1:16858719..17088425hg19UCSC Ensembl
Innerchr1:16732137..16960180hg18UCSC Ensembl
Outerchr1:16731306..16961012hg18UCSC Ensembl
Innerchr1:16604856..16832899hg17UCSC Ensembl
Outerchr1:16604025..16833731hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38229707
hg19229707
hg18229707
hg17229707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA19221
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)nssv14430
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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