Variant Details

Variant: nsv469796

Internal ID

15534511

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:36357257..36501803	hg38	UCSC Ensembl
Inner	chr17:34725849..34857643	hg19	UCSC Ensembl
Inner	chr17:31800001..31931756	hg18	UCSC Ensembl
Inner	chr17:34902136..35053193	hg16	UCSC Ensembl

Cytoband

17q12

Allele length

Assembly	Allele length
hg38	144547
hg19	131795
hg18	131756
hg16	151058

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1676296, nssv1675393, nssv1673683, nssv1675888, nssv1673529, nssv1672501, nssv1675611, nssv1673030, nssv1675711, nssv1676688, nssv1672582, nssv1673018, nssv1673263, nssv1676142, nssv1673863, nssv1673814, nssv1672625, nssv1673371, nssv1672176, nssv1672737, nssv1674261, nssv1674991, nssv1675965, nssv1672730, nssv1675422, nssv1675544, nssv1672434, nssv1676652, nssv1673679, nssv1673209, nssv1674949, nssv1675756, nssv1673123, nssv1674977, nssv1672358, nssv1675166, nssv1674665, nssv1674207, nssv1674039, nssv1673347, nssv1675263, nssv1675271, nssv1672356, nssv1675695, nssv1674088, nssv1676099, nssv1675120, nssv1674250, nssv1672628, nssv1672938

Samples

Known Genes

MYO19, TBC1D3G, TBC1D3H, ZNHIT3

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)

nsv469796

Frequency

Sample Size	265
Observed Gain	32
Observed Loss	18
Observed Complex	0
Frequency	n/a