Variant Details

Variant: nsv469668

Internal ID

15534383

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:70848892..71015232	hg38	UCSC Ensembl
Inner	chr5:70144719..70311059	hg19	UCSC Ensembl
Inner	chr5_h2_hap1:427731..569319	hg18	UCSC Ensembl
Inner	chr5:69015321..69181631	hg16	UCSC Ensembl

Cytoband

5q13.2

Allele length

Assembly	Allele length
hg38	166341
hg19	166341
hg18	141589
hg16	166311

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1673756, nssv1674546, nssv1672612, nssv1672586, nssv1674989, nssv1675054, nssv1672089, nssv1676108, nssv1673243, nssv1674161, nssv1674017, nssv1673429, nssv1676023, nssv1675960, nssv1675026, nssv1675081, nssv1675617, nssv1676464, nssv1676279, nssv1676490, nssv1675654, nssv1674318, nssv1672100, nssv1675372, nssv1672214, nssv1676686, nssv1676204, nssv1672190, nssv1675687, nssv1674990, nssv1672070, nssv1674787, nssv1673688, nssv1674148, nssv1675505, nssv1675959, nssv1676305, nssv1672552, nssv1673069, nssv1675213, nssv1674744, nssv1675104, nssv1672135, nssv1672955, nssv1672304, nssv1676109, nssv1672548, nssv1673528, nssv1674246, nssv1675727, nssv1673583, nssv1673622, nssv1674941, nssv1674611, nssv1673121, nssv1673693, nssv1672646, nssv1674000, nssv1672812, nssv1674378, nssv1672576, nssv1675354, nssv1676035, nssv1672078, nssv1673705, nssv1674900, nssv1674192, nssv1676530, nssv1675610, nssv1674411, nssv1676014, nssv1672798, nssv1675991, nssv1673520, nssv1672299, nssv1672107, nssv1676441, nssv1675614, nssv1674759, nssv1676184, nssv1675850, nssv1672735, nssv1674498, nssv1675306, nssv1672936, nssv1676235, nssv1675199, nssv1673406, nssv1673486, nssv1675445, nssv1673452, nssv1676618, nssv1676164, nssv1675954, nssv1672416, nssv1675461, nssv1674263, nssv1673823, nssv1676370, nssv1673709, nssv1675430, nssv1676458, nssv1675158, nssv1675255, nssv1676351, nssv1673101, nssv1672553, nssv1675726, nssv1674634, nssv1675772, nssv1675221, nssv1675940, nssv1676050, nssv1674460, nssv1673609, nssv1674586, nssv1673569, nssv1675473, nssv1676476, nssv1672763, nssv1674764, nssv1672733, nssv1674079, nssv1676465, nssv1673257, nssv1672136, nssv1674323, nssv1673378, nssv1672933, nssv1675939, nssv1672399, nssv1675769, nssv1672599

Samples

Known Genes

NAIP, SERF1A, SERF1B, SMN1, SMN2

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)

nsv469668

Frequency

Sample Size	265
Observed Gain	133
Observed Loss	0
Observed Complex	0
Frequency	n/a