A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv997465

Internal ID

18810315

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:109684336..109700319	hg38	UCSC Ensembl
Inner	chr1:110226958..110242941	hg19	UCSC Ensembl
Inner	chr1:110028481..110044464	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	15984
hg19	15984
hg18	15984

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3701936, nssv3701932, nssv3487879, nssv3484205, nssv3484416, nssv3498180, nssv3484627, nssv3501096, nssv3496591, nssv3493928, nssv3501036, nssv3497094, nssv3500633, nssv3701943, nssv3499508, nssv3701940, nssv3486248, nssv3701927, nssv3491566, nssv3485641, nssv3701937, nssv3498954, nssv3488112, nssv3491177, nssv3489064, nssv3489038, nssv3498450, nssv3490939, nssv3495580, nssv3488759, nssv3483383, nssv3497042, nssv3493700, nssv3701929, nssv3701928, nssv3495033, nssv3484093, nssv3485471, nssv3489737, nssv3501246, nssv3496634, nssv3501211, nssv3501674, nssv3486160, nssv3488724, nssv3701926, nssv3498838, nssv3492508, nssv3499023, nssv3701935, nssv3494983, nssv3494381, nssv3486669, nssv3499454, nssv3497345, nssv3499842, nssv3701938, nssv3495152, nssv3502032, nssv3488905, nssv3499504, nssv3484358, nssv3490385, nssv3488566, nssv3483896, nssv3483595, nssv3488917, nssv3502645, nssv3701934, nssv3701930, nssv3495331, nssv3491451, nssv3491622, nssv3489298, nssv3487457, nssv3494320, nssv3494350, nssv3489188, nssv3486732, nssv3502114, nssv3489793, nssv3482876, nssv3498005, nssv3491071, nssv3489847, nssv3499108, nssv3497905, nssv3492756, nssv3491004, nssv3701931, nssv3496175, nssv3492509, nssv3499080, nssv3491689, nssv3486913, nssv3485420, nssv3502159, nssv3500392, nssv3483018, nssv3501267, nssv3500956, nssv3701939, nssv3495308, nssv3482805, nssv3701933, nssv3495545, nssv3494654, nssv3492434, nssv3701941, nssv3484391, nssv3494878, nssv3701942, nssv3486419, nssv3484045, nssv3490377, nssv3488137, nssv3492303, nssv3485482, nssv3491328, nssv3488297, nssv3490235, nssv3498909, nssv3496259, nssv3491396, nssv3498374, nssv3493171, nssv3489462, nssv3486975

Samples

Known Genes

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	61
Observed Loss	67
Observed Complex	0
Frequency	n/a