A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442826



Internal ID15154859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:24894982..26029114hg38UCSC Ensembl
InnerchrY:27041129..28175261hg19UCSC Ensembl
InnerchrY:25450517..26584649hg18UCSC Ensembl
InnerchrY:25379254..26513386hg17UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg381134133
hg191134133
hg181134133
hg171134133
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656393, nssv1656414, nssv1656384, nssv1656425, nssv1656367, nssv1656392, nssv1656413, nssv1656377, nssv1656339, nssv1656395, nssv1656378, nssv1656429, nssv1656373, nssv1656342, nssv1656351, nssv1656410, nssv1656397, nssv1656310, nssv1656319, nssv1656391, nssv1656383, nssv1656305, nssv1656340, nssv1656419, nssv1656411, nssv1656354, nssv1656323, nssv1656315, nssv1656336, nssv1656335, nssv1656421, nssv1656356, nssv1656330, nssv1656313, nssv1656381, nssv1656361, nssv1656333, nssv1656387, nssv1656331, nssv1656424, nssv1656420, nssv1656385, nssv1656332, nssv1656300, nssv1656380, nssv1656349, nssv1656418, nssv1656334, nssv1656337, nssv1656325, nssv1656415, nssv1656408, nssv1656405, nssv1656375, nssv1656404, nssv1656390, nssv1656430, nssv1656299, nssv1656344, nssv1656307, nssv1656359, nssv1656369, nssv1656402, nssv1656353, nssv1656311, nssv1656345, nssv1656346, nssv1656308, nssv1656355, nssv1656371, nssv1656360, nssv1656297, nssv1656394, nssv1656365, nssv1656314, nssv1656321, nssv1656328, nssv1656312, nssv1656324, nssv1656407, nssv1656403, nssv1656348, nssv1656338, nssv1656318, nssv1656329, nssv1656423, nssv1656296, nssv1656294, nssv1656350, nssv1656398, nssv1656417, nssv1656322, nssv1656428, nssv1656302, nssv1656326, nssv1656343, nssv1656386, nssv1656364, nssv1656426, nssv1656389, nssv1656320, nssv1656431, nssv1656368, nssv1656347, nssv1656301, nssv1656362, nssv1656316, nssv1656295, nssv1656306, nssv1656298, nssv1656409, nssv1656341, nssv1656370, nssv1656363, nssv1656304, nssv1656317, nssv1656372, nssv1656309, nssv1656401, nssv1656422, nssv1656412, nssv1656374, nssv1656376, nssv1656382, nssv1656416, nssv1656327, nssv1656303, nssv1656427, nssv1656396, nssv1656358, nssv1656406, nssv1656366, nssv1656400, nssv1656379, nssv1656352, nssv1656399, nssv1656357, nssv1656388
SamplesNA10859, NA19142, NA19137, NA10831, NA19207, NA18870, NA18964, NA19127, NA19152, NA19194, NA12249, NA18861, NA18594, NA18951, NA19192, NA18871, NA12802, NA19222, NA18523, NA18975, NA07056, NA12875, NA19209, NA19093, NA18526, NA10839, NA18550, NA18570, NA19003, NA12815, NA10847, NA18545, NA12813, NA18529, NA18969, NA18972, NA18517, NA18947, NA18573, NA18542, NA07019, NA18855, NA07348, NA10855, NA18524, NA18505, NA12044, NA19208, NA18949, NA19143, NA10863, NA12865, NA19140, NA11882, NA12763, NA18912, NA18998, NA18508, NA18992, NA11840, NA12753, NA12004, NA18566, NA18576, NA07345, NA12873, NA18991, NA12740, NA18592, NA12761, NA18956, NA18547, NA18976, NA18973, NA11995, NA18593, NA19100, NA12234, NA12751, NA12006, NA12239, NA12145, NA18537, NA19129, NA19172, NA12892, NA19094, NA06985, NA19206, NA18968, NA19102, NA19238, NA18502, NA12057, NA18978, NA18564, NA18858, NA18942, NA18540, NA18997, NA19221, NA19131, NA19159, NA18579, NA18974, NA19141, NA11832, NA18987, NA18582, NA18999, NA07055, NA18552, NA19201, NA06991, NA19193, NA18872, NA12156, NA19116, NA19132, NA18577, NA19099, NA12878, NA11830, NA18852, NA11993, NA18571, NA12236, NA19240, NA12717, NA18532, NA19204, NA18981, NA18555, NA19202, NA07000, NA18980, NA10854, NA10861
Known GenesBPY2, BPY2B, BPY2C, CDY1, CDY1B, CSPG4P1Y, DAZ2, DAZ3, DAZ4, GOLGA2P2Y, GOLGA2P3Y, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442826
Frequency
Sample Size270
Observed Gain10
Observed Loss128
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer