A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1013722

Internal ID

18756254

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:103621153..103725588	hg38	UCSC Ensembl
Inner	chr1:104163775..104268210	hg19	UCSC Ensembl
Inner	chr1:103965298..104069733	hg18	UCSC Ensembl

Cytoband

1p21.1

Allele length

Assembly	Allele length
hg38	104436
hg19	104436
hg18	104436

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3491585, nssv3492930, nssv3700764, nssv3498999, nssv3488618, nssv3700780, nssv3484697, nssv3494846, nssv3700775, nssv3487363, nssv3700771, nssv3490253, nssv3489340, nssv3489673, nssv3484960, nssv3485212, nssv3495057, nssv3483606, nssv3700787, nssv3499946, nssv3482800, nssv3700783, nssv3498704, nssv3489463, nssv3491570, nssv3700772, nssv3700766, nssv3700809, nssv3486078, nssv3700779, nssv3494534, nssv3494077, nssv3700789, nssv3499063, nssv3700785, nssv3485460, nssv3490521, nssv3500046, nssv3483700, nssv3489414, nssv3700758, nssv3486432, nssv3700797, nssv3492872, nssv3483036, nssv3487393, nssv3700795, nssv3492065, nssv3700812, nssv3495745, nssv3490135, nssv3700776, nssv3494030, nssv3700807, nssv3500476, nssv3501086, nssv3483510, nssv3500140, nssv3494249, nssv3700802, nssv3700767, nssv3493898, nssv3700799, nssv3497567, nssv3700756, nssv3492859, nssv3484239, nssv3483798, nssv3500842, nssv3491093, nssv3495522, nssv3700762, nssv3487458, nssv3700769, nssv3700773, nssv3486497, nssv3500461, nssv3486914, nssv3486235, nssv3700788, nssv3494366, nssv3495596, nssv3493676, nssv3492865, nssv3498232, nssv3700755, nssv3499599, nssv3700790, nssv3700781, nssv3498921, nssv3488205, nssv3487584, nssv3492677, nssv3490839, nssv3491436, nssv3494117, nssv3700782, nssv3496068, nssv3494637, nssv3700791, nssv3700798, nssv3485605, nssv3700801, nssv3485356, nssv3501371, nssv3498847, nssv3501053, nssv3488609, nssv3700786, nssv3700810, nssv3494851, nssv3498122, nssv3700777, nssv3700796, nssv3700768, nssv3483693, nssv3483142, nssv3700792, nssv3491016, nssv3700800, nssv3492381, nssv3498427, nssv3496333, nssv3485096, nssv3494409, nssv3488850, nssv3700794, nssv3491644, nssv3700811, nssv3500049, nssv3700760, nssv3485563, nssv3495183, nssv3497224, nssv3700805, nssv3488508, nssv3484652, nssv3700759, nssv3494210, nssv3700803, nssv3496673, nssv3495765, nssv3700770, nssv3700778, nssv3700808, nssv3700784, nssv3494149, nssv3489419, nssv3700761, nssv3488411, nssv3496551, nssv3700757, nssv3498123, nssv3496879, nssv3700804, nssv3499427, nssv3700774, nssv3700763, nssv3492224, nssv3482865, nssv3497212, nssv3499129, nssv3483030, nssv3700793, nssv3700765, nssv3495531, nssv3700806, nssv3495047, nssv3485986

Samples

Known Genes

AMY1A, AMY1B, AMY1C, AMY2A

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	29084
Observed Gain	124
Observed Loss	45
Observed Complex	0
Frequency	n/a