A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1010592

Internal ID

19099809

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:109681750..109697544	hg38	UCSC Ensembl
Inner	chr1:110224372..110240166	hg19	UCSC Ensembl
Inner	chr1:110025895..110041689	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	15795
hg19	15795
hg18	15795

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3487468, nssv3701189, nssv3701203, nssv3494543, nssv3483302, nssv3500598, nssv3497155, nssv3493089, nssv3496573, nssv3492169, nssv3499199, nssv3493599, nssv3701190, nssv3701194, nssv3497710, nssv3701193, nssv3500910, nssv3494062, nssv3486624, nssv3489551, nssv3701197, nssv3484980, nssv3498144, nssv3491630, nssv3501807, nssv3494523, nssv3483484, nssv3483144, nssv3485279, nssv3501196, nssv3501318, nssv3483183, nssv3701186, nssv3482982, nssv3701208, nssv3487359, nssv3482944, nssv3502540, nssv3500120, nssv3486148, nssv3501739, nssv3487171, nssv3701185, nssv3495655, nssv3701191, nssv3497259, nssv3701188, nssv3499678, nssv3498622, nssv3502659, nssv3496121, nssv3493352, nssv3493069, nssv3490390, nssv3483805, nssv3502425, nssv3500358, nssv3497819, nssv3494610, nssv3492461, nssv3490566, nssv3486090, nssv3491518, nssv3497568, nssv3494917, nssv3502269, nssv3501471, nssv3492081, nssv3483077, nssv3488365, nssv3492899, nssv3487369, nssv3495389, nssv3494962, nssv3484393, nssv3493343, nssv3498963, nssv3488542, nssv3701187, nssv3489319, nssv3495661, nssv3493238, nssv3492881, nssv3499965, nssv3493367, nssv3701200, nssv3488944, nssv3499895, nssv3495715, nssv3701210, nssv3499315, nssv3495473, nssv3491438, nssv3486773, nssv3498352, nssv3485277, nssv3485642, nssv3483155, nssv3502328, nssv3497906, nssv3489842, nssv3701195, nssv3499648, nssv3488160, nssv3701202, nssv3499829, nssv3486520, nssv3701205, nssv3701206, nssv3487755, nssv3486915, nssv3493045, nssv3502121, nssv3491472, nssv3501339, nssv3489408, nssv3492951, nssv3495465, nssv3491684, nssv3484359, nssv3490573, nssv3499203, nssv3498888, nssv3488372, nssv3490825, nssv3493019, nssv3490576, nssv3493400, nssv3490663, nssv3485687, nssv3494619, nssv3496540, nssv3496056, nssv3486441, nssv3485417, nssv3493549, nssv3485747, nssv3701207, nssv3493353, nssv3497949, nssv3488898, nssv3487965, nssv3484186, nssv3494615, nssv3489614, nssv3501345, nssv3502407, nssv3496412, nssv3483073, nssv3489794, nssv3489075, nssv3487704, nssv3486835, nssv3488138, nssv3701199, nssv3701198, nssv3491993, nssv3486885, nssv3492662, nssv3490341, nssv3487560, nssv3484920, nssv3485166, nssv3485922, nssv3487231, nssv3485457, nssv3489589, nssv3495969, nssv3494250, nssv3483120, nssv3701209, nssv3499313, nssv3490966, nssv3494000, nssv3483270, nssv3501357, nssv3484348, nssv3701192, nssv3499202, nssv3498604, nssv3488130, nssv3497744, nssv3491685, nssv3496695, nssv3492305, nssv3495645, nssv3497440, nssv3491227, nssv3498074, nssv3500823, nssv3498970, nssv3495466, nssv3500990, nssv3498905, nssv3494852, nssv3501212, nssv3502005, nssv3489915, nssv3485461, nssv3483063, nssv3497993, nssv3499654, nssv3497999, nssv3500129, nssv3501520, nssv3496737, nssv3701204, nssv3701201, nssv3502301, nssv3701196, nssv3490501, nssv3496170, nssv3489575, nssv3494690, nssv3482932, nssv3490565, nssv3493348, nssv3495084, nssv3486619, nssv3490394, nssv3486131

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	11257
Observed Gain	163
Observed Loss	58
Observed Complex	0
Frequency	n/a