A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1005253

Internal ID

19094470

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:103678897..103725588	hg38	UCSC Ensembl
Inner	chr1:104221519..104268210	hg19	UCSC Ensembl
Inner	chr1:104023042..104069733	hg18	UCSC Ensembl

Cytoband

1p21.1

Allele length

Assembly	Allele length
hg38	46692
hg19	46692
hg18	46692

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3701092, nssv3488142, nssv3500119, nssv3493247, nssv3483004, nssv3485734, nssv3492460, nssv3493511, nssv3500862, nssv3499255, nssv3701118, nssv3701101, nssv3485514, nssv3701115, nssv3498150, nssv3701124, nssv3495625, nssv3487693, nssv3501478, nssv3499855, nssv3497604, nssv3494382, nssv3502694, nssv3490423, nssv3496997, nssv3494088, nssv3701126, nssv3484943, nssv3490605, nssv3491035, nssv3701127, nssv3490957, nssv3497677, nssv3492210, nssv3486277, nssv3486319, nssv3502375, nssv3496296, nssv3701122, nssv3499985, nssv3701109, nssv3701093, nssv3490833, nssv3489240, nssv3498614, nssv3494717, nssv3486469, nssv3495604, nssv3500032, nssv3499037, nssv3498602, nssv3484200, nssv3499447, nssv3496364, nssv3494519, nssv3487302, nssv3491452, nssv3487906, nssv3502618, nssv3489243, nssv3500209, nssv3701123, nssv3488775, nssv3701106, nssv3496304, nssv3485045, nssv3483767, nssv3487518, nssv3483931, nssv3494173, nssv3499303, nssv3496720, nssv3492697, nssv3491321, nssv3701102, nssv3486673, nssv3502681, nssv3488184, nssv3701117, nssv3502295, nssv3701111, nssv3502416, nssv3501899, nssv3495127, nssv3497560, nssv3490722, nssv3701116, nssv3496855, nssv3492984, nssv3701105, nssv3701104, nssv3490774, nssv3484196, nssv3484722, nssv3701103, nssv3701110, nssv3701096, nssv3492027, nssv3701113, nssv3499481, nssv3497492, nssv3487946, nssv3701100, nssv3497487, nssv3701097, nssv3495682, nssv3486038, nssv3701120, nssv3493087, nssv3701114, nssv3701094, nssv3493822, nssv3701095, nssv3495686, nssv3492994, nssv3492743, nssv3496592, nssv3486263, nssv3488832, nssv3502463, nssv3494017, nssv3494970, nssv3701108, nssv3485929, nssv3495714, nssv3701119, nssv3701107, nssv3498801, nssv3490777, nssv3701099, nssv3491842, nssv3488567, nssv3485098, nssv3483369, nssv3490224, nssv3701125, nssv3488695, nssv3487782, nssv3486413, nssv3491381, nssv3490194, nssv3701121, nssv3490808, nssv3484500, nssv3497453, nssv3701112, nssv3701098, nssv3492887

Samples

Known Genes

AMY1A, AMY1B, AMY1C

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	11257
Observed Gain	93
Observed Loss	55
Observed Complex	0
Frequency	n/a