A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9003



Internal ID15846915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:242877255..243025120hg38UCSC Ensembl
Outerchr1:243040557..243188422hg19UCSC Ensembl
Outerchr1:241107180..241255045hg18UCSC Ensembl
Outerchr1:239366598..239514463hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38147866
hg19147866
hg18147866
hg17147866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23066, nssv23371, nssv24283, nssv25460, nssv28160, nssv27141, nssv25971, nssv27405, nssv28353, nssv25183, nssv23062, nssv23691, nssv23375, nssv23382, nssv22435, nssv25163, nssv26187, nssv27731
SamplesNA18502, NA11830, NA18980, NA12802, NA18942, NA10839, NA18975, NA10847, NA10863, NA19221, NA18537, NA19132, NA18517, NA18564, NA19240, NA12740, NA18972, NA18552
Known Genes
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)nsv9003
Frequency
Sample Size31
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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