A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv471236

Internal ID15211109
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34360482..34508393hg38UCSC Ensembl
Innerchr15:34652683..34800594hg19UCSC Ensembl
Innerchr15:32439975..32587886hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545650, nssv545695, nssv545691, nssv545652, nssv545664, nssv545671, nssv545674, nssv545696, nssv545680, nssv545667, nssv545694, nssv545660, nssv545675, nssv545683, nssv545677, nssv545663, nssv545703, nssv545646, nssv545662, nssv545702, nssv545670, nssv545653, nssv545672, nssv545651, nssv545700, nssv545661, nssv545704, nssv545642, nssv545705, nssv545656, nssv545655, nssv545647, nssv545668, nssv545648, nssv545688, nssv545645, nssv545679, nssv545684, nssv545644, nssv545666, nssv545682, nssv545669, nssv545673, nssv545693, nssv545659, nssv545690, nssv545697, nssv545692, nssv545689, nssv545686, nssv545657, nssv545701, nssv545678, nssv545681, nssv545685, nssv545649, nssv545658
SamplesHGDP01254, HGDP01221, HGDP01257, HGDP00879, HGDP00903, HGDP00455, HGDP00701, HGDP00686, HGDP00600, HGDP00281, HGDP00298, HGDP01408, HGDP00643, HGDP00988, HGDP01405, HGDP01318, HGDP01411, HGDP00931, HGDP00603, HGDP01029, HGDP00550, HGDP01418, HGDP01201, HGDP00906, HGDP00866, HGDP00595, HGDP01253, HGDP00635, HGDP01184, HGDP00315, HGDP00580, HGDP00978, HGDP00854, HGDP00987, HGDP00910, HGDP00491, HGDP00630, HGDP00881, HGDP01283, HGDP00070, HGDP01381, HGDP01275, HGDP00556, HGDP00941, HGDP00693, HGDP00877, HGDP00585, HGDP00554, HGDP01386, HGDP01202, HGDP01412, HGDP00679, HGDP01200, HGDP00953, HGDP00613, HGDP00579, HGDP01403
Known GenesGOLGA8A, LPCAT4, MIR1233-1, MIR1233-2
MethodSNP array
AnalysisWe used the previously validated default quality control criteria, excluding samples with a log R ratio standard deviation of >0.28, a median B allele frequency of >0.55 or <0.45, or a B allele frequency drift of >0.002 (for more details see Wang et al. 2007). As the PennCNV algorithm is more sensitive and specific to CNVs covering greater numbers of SNPs in the HumanHap550 array, use of a minimum number of SNPs in CNV detection increases the reliability of CNV calls (with a consequent reduction in calls per individual). We set 10 SNPs as the minimum detection threshold in the algorithm.
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Pubmed ID18288195
Accession Number(s)nsv471236
Sample Size443
Observed Gain0
Observed Loss57
Observed Complex0

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