A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830980



Internal ID9421831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43865998..44078539hg38UCSC Ensembl
Outerchr7:43905597..44118138hg19UCSC Ensembl
Outerchr7:43872122..44084663hg18UCSC Ensembl
Outerchr7:43678837..43891378hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38212542
hg19212542
hg18212542
hg17212542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446064, nssv1446063, nssv1446066, nssv1446060, nssv1446061, nssv1446067, nssv1446065
Samples
Known GenesDBNL, LINC00957, MIR6837, MIR6838, MRPS24, PGAM2, POLM, POLR2J4, RASA4CP, SPDYE1, UBE2D4, URGCP, URGCP-MRPS24
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)nsv830980
Frequency
Sample Size95
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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