A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469656



Internal ID15187685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54705632..54880532hg38UCSC Ensembl
Innerchr19:55217409..55391988hg19UCSC Ensembl
Innerchr19:59909221..60083800hg18UCSC Ensembl
Innerchr19:59909221..60083800hg16UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38174901
hg19174580
hg18174580
hg16174580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673524, nssv1673676, nssv1674191, nssv1676294, nssv1675672, nssv1674542, nssv1672173, nssv1676401, nssv1673087, nssv1675536, nssv1673206, nssv1675224, nssv1673225
Samples
Known GenesFCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LILRP2, LOC100287534
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)nsv469656
Frequency
Sample Size265
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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