Variant Details

Variant: nsv469513

Internal ID

15534228

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:103635372..103750710	hg38	UCSC Ensembl
Inner	chr1:104177994..104293332	hg19	UCSC Ensembl
Inner	chr1:103979517..104094855	hg18	UCSC Ensembl
Inner	chr1:103532647..103647985	hg16	UCSC Ensembl

Cytoband

1p21.1

Allele length

Assembly	Allele length
hg38	115339
hg19	115339
hg18	115339
hg16	115339

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1675114, nssv1674863, nssv1674300, nssv1672849, nssv1673292, nssv1676681, nssv1674843, nssv1673451, nssv1672177, nssv1672685, nssv1675322, nssv1675178, nssv1674545, nssv1673956, nssv1672657, nssv1672098, nssv1674297, nssv1673447, nssv1675918, nssv1674702, nssv1676325, nssv1675909, nssv1676608, nssv1672713, nssv1676258, nssv1673247, nssv1673366, nssv1674781, nssv1676170, nssv1674802, nssv1674572, nssv1675252, nssv1672951, nssv1674179, nssv1673997, nssv1676607, nssv1675770, nssv1672980, nssv1676002, nssv1675891, nssv1673349, nssv1674254, nssv1672506, nssv1673589, nssv1675969, nssv1672236, nssv1672359, nssv1672217, nssv1676338, nssv1674758, nssv1672816, nssv1676331, nssv1674997, nssv1676620, nssv1675197, nssv1673771, nssv1675147, nssv1672947, nssv1674046, nssv1672573, nssv1674150, nssv1673987, nssv1672529, nssv1674624, nssv1672876, nssv1672245, nssv1672111, nssv1674946, nssv1673864, nssv1674995, nssv1675146, nssv1673301, nssv1674605, nssv1673880, nssv1673502, nssv1675383, nssv1673335, nssv1674862, nssv1673158, nssv1675805, nssv1675719, nssv1674883, nssv1674780, nssv1673049, nssv1673038, nssv1676460, nssv1675906, nssv1676505, nssv1673305, nssv1676480, nssv1675651, nssv1674407, nssv1673861, nssv1675290, nssv1675448, nssv1675285, nssv1675895, nssv1672579, nssv1673367, nssv1672398, nssv1672105, nssv1674137, nssv1672090, nssv1673223, nssv1672909, nssv1676394, nssv1673632, nssv1675417, nssv1676345, nssv1673788, nssv1674996, nssv1672584, nssv1672267, nssv1676694, nssv1676500, nssv1674434, nssv1672523, nssv1675733, nssv1674895, nssv1674175, nssv1673403, nssv1674701, nssv1673394, nssv1673436, nssv1675300, nssv1674052, nssv1672583, nssv1676387, nssv1675444, nssv1672110, nssv1672497, nssv1676246, nssv1673715, nssv1676454, nssv1674313, nssv1672246, nssv1675475, nssv1673216, nssv1672830, nssv1676357, nssv1672392, nssv1674326, nssv1673255, nssv1676269, nssv1672734, nssv1675046, nssv1672195, nssv1676461, nssv1675693, nssv1673237, nssv1676528, nssv1676420, nssv1675107, nssv1673581, nssv1673145, nssv1672322, nssv1674289, nssv1673559, nssv1675741, nssv1672714, nssv1674116, nssv1675443, nssv1675195, nssv1673907, nssv1675014, nssv1676061, nssv1675867, nssv1675437, nssv1672821, nssv1675006, nssv1672513, nssv1674282, nssv1673590, nssv1673550, nssv1676552, nssv1676612, nssv1676337, nssv1675870, nssv1672636, nssv1675483, nssv1673731

Samples

Known Genes

AMY1A, AMY1B, AMY1C

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)

nsv469513

Frequency

Sample Size	265
Observed Gain	181
Observed Loss	0
Observed Complex	0
Frequency	n/a