A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469848



Internal ID15187877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1146082..1322235hg38UCSC Ensembl
Innerchr1:1081462..1257615hg19UCSC Ensembl
Innerchr1:1071325..1247478hg18UCSC Ensembl
Innerchr1:987520..1163673hg16UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38176154
hg19176154
hg18176154
hg16176154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675776, nssv1672249, nssv1675926, nssv1672854, nssv1675128, nssv1673022, nssv1672602, nssv1675676, nssv1676397, nssv1672396, nssv1674008, nssv1672390, nssv1673850, nssv1672307, nssv1674115, nssv1674168, nssv1672366, nssv1672738, nssv1673267, nssv1675327, nssv1673400, nssv1672244, nssv1675455, nssv1673733, nssv1674068, nssv1676596, nssv1674359, nssv1674135, nssv1673139, nssv1674020, nssv1676084, nssv1675314, nssv1673518, nssv1672094, nssv1672467, nssv1674296, nssv1674019, nssv1675375, nssv1675619, nssv1672102, nssv1675739, nssv1674285, nssv1674154, nssv1676561, nssv1676489, nssv1675446, nssv1673131, nssv1673798, nssv1674548, nssv1676663, nssv1672626, nssv1675837, nssv1673413, nssv1674236, nssv1676085, nssv1675092, nssv1676113, nssv1673566
Samples
Known GenesACAP3, B3GALT6, CPSF3L, FAM132A, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, PUSL1, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469848
Frequency
Sample Size265
Observed Gain58
Observed Loss0
Observed Complex0
Frequencyn/a


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