A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1675767



Internal ID15533275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7221783..7414190hg38UCSC Ensembl
Innerchr7:7261414..7453821hg19UCSC Ensembl
Innerchr7:7227939..7420346hg18UCSC Ensembl
Innerchr7:7005751..7198158hg16UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38192408
hg19192408
hg18192408
hg16192408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469770
Supporting Variants
Samples
Known GenesC1GALT1, COL28A1, LOC101927354
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)nssv1675767
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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