Variant Details

Variant: nsv442827

Internal ID

15501546

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrY:26131545..26292396	hg38	UCSC Ensembl
Inner	chrY:28277692..28438543	hg19	UCSC Ensembl
Inner	chrY:26687080..26847931	hg18	UCSC Ensembl
Inner	chrY:26615817..26776668	hg17	UCSC Ensembl

Cytoband

Yq11.23

Allele length

Assembly	Allele length
hg38	160852
hg19	160852
hg18	160852
hg17	160852

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1656545, nssv1656451, nssv1656502, nssv1656468, nssv1656522, nssv1656510, nssv1656519, nssv1656453, nssv1656534, nssv1656432, nssv1656517, nssv1656548, nssv1656465, nssv1656458, nssv1656550, nssv1656469, nssv1656493, nssv1656470, nssv1656473, nssv1656514, nssv1656472, nssv1656492, nssv1656452, nssv1656455, nssv1656433, nssv1656515, nssv1656489, nssv1656508, nssv1656464, nssv1656526, nssv1656540, nssv1656512, nssv1656438, nssv1656546, nssv1656448, nssv1656505, nssv1656488, nssv1656434, nssv1656523, nssv1656555, nssv1656551, nssv1656477, nssv1656549, nssv1656560, nssv1656542, nssv1656462, nssv1656441, nssv1656461, nssv1656566, nssv1656495, nssv1656490, nssv1656439, nssv1656485, nssv1656437, nssv1656474, nssv1656480, nssv1656442, nssv1656513, nssv1656456, nssv1656446, nssv1656504, nssv1656533, nssv1656552, nssv1656435, nssv1656501, nssv1656561, nssv1656457, nssv1656536, nssv1656565, nssv1656445, nssv1656525, nssv1656499, nssv1656558, nssv1656483, nssv1656564, nssv1656556, nssv1656521, nssv1656507, nssv1656563, nssv1656511, nssv1656436, nssv1656440, nssv1656567, nssv1656487, nssv1656541, nssv1656463, nssv1656559, nssv1656503, nssv1656506, nssv1656498, nssv1656524, nssv1656520, nssv1656478, nssv1656449, nssv1656529, nssv1656528, nssv1656491, nssv1656531, nssv1656557, nssv1656500, nssv1656476, nssv1656471, nssv1656444, nssv1656443, nssv1656479, nssv1656484, nssv1656467, nssv1656454, nssv1656530, nssv1656537, nssv1656447, nssv1656538, nssv1656460, nssv1656509, nssv1656466, nssv1656496, nssv1656544, nssv1656562, nssv1656527, nssv1656547, nssv1656516, nssv1656459, nssv1656535, nssv1656497, nssv1656450, nssv1656553, nssv1656494, nssv1656482, nssv1656543, nssv1656539, nssv1656486, nssv1656481, nssv1656532, nssv1656518, nssv1656554, nssv1656475

Samples

NA18998, NA18502, NA12717, NA19222, NA11830, NA18947, NA11995, NA19204, NA18861, NA18592, NA18508, NA18980, NA18855, NA12236, NA18999, NA12751, NA18545, NA12004, NA12865, NA18870, NA18526, NA18969, NA12813, NA19127, NA19192, NA18550, NA19201, NA10854, NA12802, NA18558, NA18547, NA19131, NA18942, NA18582, NA18571, NA18964, NA18949, NA12761, NA07019, NA12156, NA19137, NA19238, NA12044, NA19207, NA19172, NA12815, NA19159, NA10855, NA19209, NA10839, NA18975, NA18973, NA11993, NA10847, NA18951, NA19194, NA12753, NA10863, NA10831, NA19152, NA12878, NA18956, NA18991, NA18529, NA18579, NA18871, NA18976, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA18573, NA11840, NA12249, NA18912, NA12892, NA18532, NA12239, NA12145, NA19099, NA18555, NA07345, NA06985, NA18523, NA19132, NA18570, NA18858, NA18593, NA18576, NA18608, NA19094, NA19003, NA18978, NA11882, NA19206, NA18542, NA06991, NA18517, NA18540, NA18564, NA12057, NA10859, NA19140, NA19240, NA19100, NA12873, NA18992, NA10861, NA19193, NA07348, NA12763, NA07055, NA18594, NA19143, NA12740, NA18987, NA19093, NA19102, NA12875, NA19116, NA18972, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA12006, NA07000, NA18577, NA11832, NA18997

Known Genes

Method

SNP array

Analysis

We 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

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442827

Frequency

Sample Size	270
Observed Gain	8
Observed Loss	128
Observed Complex	0
Frequency	n/a