Variant Details

Variant: nsv442948

Internal ID

15154981

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:53108689..53113609	hg38	UCSC Ensembl
Inner	chr5:52404519..52409439	hg19	UCSC Ensembl
Inner	chr5:52440276..52445196	hg18	UCSC Ensembl
Inner	chr5:52440276..52445196	hg17	UCSC Ensembl

Cytoband

5q11.2

Allele length

Assembly	Allele length
hg38	4921
hg19	4921
hg18	4921
hg17	4921

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1628460, nssv1628466, nssv1628514, nssv1628525, nssv1628475, nssv1628496, nssv1628522, nssv1628528, nssv1628520, nssv1628526, nssv1628465, nssv1628487, nssv1628511, nssv1628481, nssv1628480, nssv1628527, nssv1628478, nssv1628515, nssv1628529, nssv1628524, nssv1628497, nssv1628464, nssv1628499, nssv1628482, nssv1628461, nssv1628468, nssv1628469, nssv1628486, nssv1628483, nssv1628463, nssv1628467, nssv1628495, nssv1628518, nssv1628474, nssv1628494, nssv1628493, nssv1628517, nssv1628500, nssv1628510, nssv1628508, nssv1628521, nssv1628473, nssv1628532, nssv1628490, nssv1628470, nssv1628512, nssv1628492, nssv1628462, nssv1628503, nssv1628485, nssv1628509, nssv1628479, nssv1628530, nssv1628505, nssv1628498, nssv1628476, nssv1628488, nssv1628471, nssv1628501, nssv1628516, nssv1628507, nssv1628489, nssv1628484, nssv1628504, nssv1628531, nssv1628523, nssv1628506, nssv1628502, nssv1628519, nssv1628472, nssv1628513, nssv1628477, nssv1628491

Samples

NA19141, NA19222, NA11995, NA11829, NA18862, NA18592, NA18508, NA12814, NA10851, NA18959, NA18550, NA10846, NA18995, NA10854, NA12802, NA19119, NA18558, NA19131, NA19138, NA18964, NA19137, NA19238, NA10855, NA19209, NA10839, NA18975, NA19200, NA10847, NA12760, NA19120, NA18991, NA19103, NA18572, NA11839, NA18981, NA19221, NA19202, NA19000, NA11840, NA12239, NA12145, NA19099, NA12707, NA18593, NA19094, NA11882, NA18542, NA10859, NA12873, NA18992, NA10861, NA18943, NA07055, NA18501, NA19223, NA19211, NA18994, NA19093, NA18636, NA18521, NA18500, NA18609, NA18506, NA19102, NA18972, NA18552, NA18968, NA19139, NA12006, NA07000, NA18965, NA11832, NA18997

Known Genes

LOC257396, MOCS2

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)

nsv442948

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	73
Observed Complex	0
Frequency	n/a