A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442825



Internal ID15154858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:24164942..24856589hg38UCSC Ensembl
InnerchrY:26311089..27002736hg19UCSC Ensembl
InnerchrY:24720477..25412124hg18UCSC Ensembl
InnerchrY:24649214..25340861hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38691648
hg19691648
hg18691648
hg17691648
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1656229, nssv1656169, nssv1656290, nssv1656156, nssv1656251, nssv1656287, nssv1656155, nssv1656245, nssv1656174, nssv1656211, nssv1656228, nssv1656277, nssv1656197, nssv1656246, nssv1656233, nssv1656244, nssv1656205, nssv1656166, nssv1656243, nssv1656285, nssv1656264, nssv1656190, nssv1656212, nssv1656239, nssv1656249, nssv1656250, nssv1656191, nssv1656283, nssv1656158, nssv1656164, nssv1656199, nssv1656270, nssv1656163, nssv1656282, nssv1656201, nssv1656231, nssv1656183, nssv1656217, nssv1656214, nssv1656260, nssv1656230, nssv1656187, nssv1656218, nssv1656226, nssv1656181, nssv1656223, nssv1656237, nssv1656258, nssv1656204, nssv1656261, nssv1656227, nssv1656259, nssv1656165, nssv1656271, nssv1656219, nssv1656241, nssv1656161, nssv1656206, nssv1656286, nssv1656186, nssv1656254, nssv1656268, nssv1656242, nssv1656180, nssv1656220, nssv1656278, nssv1656167, nssv1656182, nssv1656193, nssv1656267, nssv1656247, nssv1656210, nssv1656279, nssv1656281, nssv1656178, nssv1656179, nssv1656280, nssv1656269, nssv1656208, nssv1656272, nssv1656225, nssv1656284, nssv1656262, nssv1656160, nssv1656184, nssv1656172, nssv1656176, nssv1656288, nssv1656203, nssv1656293, nssv1656224, nssv1656209, nssv1656236, nssv1656162, nssv1656273, nssv1656171, nssv1656170, nssv1656289, nssv1656173, nssv1656159, nssv1656194, nssv1656195, nssv1656222, nssv1656234, nssv1656188, nssv1656255, nssv1656263, nssv1656213, nssv1656248, nssv1656276, nssv1656221, nssv1656189, nssv1656200, nssv1656207, nssv1656168, nssv1656252, nssv1656274, nssv1656265, nssv1656215, nssv1656196, nssv1656216, nssv1656177, nssv1656192, nssv1656266, nssv1656240, nssv1656291, nssv1656185, nssv1656175, nssv1656238, nssv1656198, nssv1656253, nssv1656256, nssv1656257, nssv1656232, nssv1656292, nssv1656202, nssv1656157, nssv1656235, nssv1656275
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, NA18960, 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, CSPG4P1Y, DAZ2, DAZ3, DAZ4, GOLGA2P2Y, GOLGA2P3Y, TTTY17A, TTTY17B, TTTY17C, 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)nsv442825
Frequency
Sample Size270
Observed Gain11
Observed Loss128
Observed Complex0
Frequencyn/a


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