A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831188



Internal ID9422039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:151038117..151215789hg38UCSC Ensembl
Outerchr7:150735204..150912875hg19UCSC Ensembl
Outerchr7:150366137..150543808hg18UCSC Ensembl
Outerchr7:150172852..150350523hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38177673
hg19177672
hg18177672
hg17177672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446799, nssv1446800, nssv1446798, nssv1446801, nssv1446803, nssv1446802
Samples
Known GenesABCB8, ABCF2, AGAP3, ASB10, ASIC3, CDK5, FASTK, GBX1, SLC4A2, TMUB1
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv831188
Frequency
Sample Size95
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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