Variant Details

Variant: nsv469866

Internal ID

15534581

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:640444..820394	hg38	UCSC Ensembl
Inner	chr5:640559..820509	hg19	UCSC Ensembl
Inner	chr5:693559..873509	hg18	UCSC Ensembl
Inner	chr5:693297..873247	hg16	UCSC Ensembl

Cytoband

5p15.33

Allele length

Assembly	Allele length
hg38	179951
hg19	179951
hg18	179951
hg16	179951

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv7n29

Supporting Variants

nssv1675145, nssv1675667, nssv1674846, nssv1676276, nssv1672258, nssv1675347, nssv1675101, nssv1672228, nssv1675141, nssv1672538, nssv1672381, nssv1673912, nssv1676700, nssv1673113, nssv1672794, nssv1676046, nssv1674721, nssv1674789, nssv1672113, nssv1674089, nssv1673433, nssv1676448, nssv1675022, nssv1673531, nssv1674523, nssv1672703, nssv1675566, nssv1674628, nssv1676139, nssv1675093, nssv1673342, nssv1673031, nssv1675996, nssv1673744, nssv1675456, nssv1673309, nssv1675367, nssv1672917, nssv1673348, nssv1676043, nssv1672954, nssv1672140, nssv1672250, nssv1673681, nssv1673048, nssv1672900, nssv1672496, nssv1673200, nssv1676355, nssv1673948, nssv1673657, nssv1676360, nssv1674950, nssv1673714, nssv1673163, nssv1672522, nssv1672237, nssv1675284, nssv1672489, nssv1673516, nssv1673892, nssv1675900, nssv1674925, nssv1673240, nssv1674084, nssv1676030, nssv1672743, nssv1674110, nssv1675088, nssv1676619, nssv1676176, nssv1675966, nssv1673719, nssv1675321, nssv1676504, nssv1674962, nssv1675980, nssv1675136, nssv1674987, nssv1675033, nssv1674826, nssv1674311, nssv1676711, nssv1673230, nssv1673685, nssv1673151, nssv1675193, nssv1675859, nssv1675173, nssv1676597, nssv1676213, nssv1674571, nssv1672502, nssv1676066, nssv1673578, nssv1672391, nssv1675740, nssv1676693, nssv1672578, nssv1675882, nssv1676087, nssv1672109, nssv1675967, nssv1675923, nssv1674657, nssv1674841, nssv1673737, nssv1673826, nssv1673984, nssv1672233, nssv1674797, nssv1673274, nssv1676437, nssv1672397, nssv1672229, nssv1675299, nssv1674529, nssv1673254, nssv1676092, nssv1672067, nssv1673004, nssv1673260

Samples

Known Genes

CEP72, TPPP, ZDHHC11

Method

BAC aCGH

Analysis

A locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.

Platform

GPL4010

Comments

Reference

Locke_et_al_2006

Pubmed ID

16826518

Accession Number(s)

nsv469866

Frequency

Sample Size	265
Observed Gain	122
Observed Loss	0
Observed Complex	0
Frequency	n/a