A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9629



Internal ID15500855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46684730..47231140hg38UCSC Ensembl
Outerchr18:44264693..44757511hg19UCSC Ensembl
Outerchr18:42518691..43011509hg18UCSC Ensembl
Outerchr18:42518691..43011509hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38546411
hg19492819
hg18492819
hg17492819
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27302, nssv26273, nssv24531, nssv26668, nssv27135, nssv25435, nssv27327, nssv27599, nssv21280, nssv24472, nssv27322, nssv28412, nssv24444, nssv23836, nssv25767
SamplesNA18502, NA12155, NA12802, NA18860, NA18975, NA19007, NA19221, NA19132, NA18517, NA18564, NA19240, NA19144, NA19173, NA18972, NA18552
Known GenesHDHD2, IER3IP1, KATNAL2, PIAS2, SKOR2, ST8SIA5, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2
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)nsv9629
Frequency
Sample Size31
Observed Gain6
Observed Loss10
Observed Complex0
Frequencyn/a


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