A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1001373

Internal ID

18743904

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:143541845..143942259	hg38	UCSC Ensembl
Inner	chr1:149036512..149436830	hg19	UCSC Ensembl
Inner	chr1:147303136..147703454	hg18	UCSC Ensembl

Cytoband

1q21.1

Allele length

Assembly	Allele length
hg38	400415
hg19	400319
hg18	400319

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3490611, nssv3485426, nssv3501736, nssv3497005, nssv3492007, nssv3485118, nssv3483671, nssv3488429, nssv3491347, nssv3498775, nssv3483424, nssv3499224, nssv3704024, nssv3704026, nssv3483425, nssv3704039, nssv3499174, nssv3704029, nssv3498444, nssv3486054, nssv3485430, nssv3495716, nssv3704027, nssv3491990, nssv3484982, nssv3499714, nssv3498906, nssv3502616, nssv3492517, nssv3502139, nssv3496272, nssv3485833, nssv3497606, nssv3496008, nssv3490030, nssv3489057, nssv3704040, nssv3494323, nssv3704028, nssv3498211, nssv3483757, nssv3490360, nssv3487639, nssv3704015, nssv3495240, nssv3489980, nssv3490370, nssv3497349, nssv3704018, nssv3485705, nssv3704023, nssv3496482, nssv3704041, nssv3704016, nssv3498367, nssv3491183, nssv3483190, nssv3704021, nssv3487710, nssv3485061, nssv3704045, nssv3501924, nssv3486039, nssv3484216, nssv3704032, nssv3502188, nssv3496629, nssv3485136, nssv3492046, nssv3501045, nssv3500746, nssv3502537, nssv3495254, nssv3704019, nssv3502446, nssv3498394, nssv3704034, nssv3500266, nssv3490420, nssv3496388, nssv3501536, nssv3704042, nssv3488725, nssv3495006, nssv3486164, nssv3704025, nssv3489586, nssv3488925, nssv3501697, nssv3496608, nssv3704030, nssv3496784, nssv3484999, nssv3490120, nssv3704020, nssv3486599, nssv3486585, nssv3495953, nssv3497713, nssv3491173, nssv3704014, nssv3502649, nssv3490685, nssv3485321, nssv3490654, nssv3487849, nssv3704043, nssv3499001, nssv3487918, nssv3499294, nssv3495014, nssv3499114, nssv3484088, nssv3704038, nssv3704035, nssv3496716, nssv3498033, nssv3482912, nssv3704033, nssv3497652, nssv3704044, nssv3704031, nssv3496387, nssv3491273, nssv3704037, nssv3483209, nssv3704036, nssv3704013, nssv3487074, nssv3492354, nssv3497134, nssv3487854, nssv3485629, nssv3485551, nssv3492566, nssv3485450, nssv3483038, nssv3704017, nssv3502677, nssv3498571, nssv3484201, nssv3704022

Samples

Known Genes

FCGR1C, LOC101929780, LOC388692, NBPF23

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	63
Observed Loss	79
Observed Complex	0
Frequency	n/a