A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1007310

Internal ID

19096529

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:72284165..72345453	hg38	UCSC Ensembl
Inner	chr1:72749848..72811136	hg19	UCSC Ensembl
Inner	chr1:72522436..72583724	hg18	UCSC Ensembl

Cytoband

1p31.1

Allele length

Assembly	Allele length
hg38	61289
hg19	61289
hg18	61289

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3482454, nssv3463502, nssv3464550, nssv3701262, nssv3478427, nssv3477479, nssv3478716, nssv3469677, nssv3466382, nssv3701277, nssv3468379, nssv3468180, nssv3464897, nssv3701274, nssv3469357, nssv3464774, nssv3475785, nssv3466111, nssv3465877, nssv3480273, nssv3474974, nssv3463215, nssv3701273, nssv3701267, nssv3477958, nssv3480078, nssv3465817, nssv3701266, nssv3470552, nssv3465832, nssv3701276, nssv3482141, nssv3481446, nssv3467211, nssv3473807, nssv3463418, nssv3463994, nssv3701263, nssv3701269, nssv3468218, nssv3472134, nssv3474918, nssv3471950, nssv3482741, nssv3480806, nssv3480202, nssv3474674, nssv3477610, nssv3471010, nssv3464185, nssv3476596, nssv3467286, nssv3463309, nssv3476791, nssv3474682, nssv3475869, nssv3470118, nssv3476917, nssv3468083, nssv3701270, nssv3476312, nssv3464009, nssv3473885, nssv3476829, nssv3464178, nssv3701272, nssv3478135, nssv3465414, nssv3466012, nssv3701265, nssv3464173, nssv3473927, nssv3477821, nssv3467562, nssv3474169, nssv3701264, nssv3701268, nssv3469550, nssv3478065, nssv3466633, nssv3481047, nssv3470103, nssv3472986, nssv3471831, nssv3469578, nssv3463757, nssv3701271, nssv3481033, nssv3473350, nssv3469189, nssv3463066, nssv3476821, nssv3472959, nssv3463190, nssv3470057, nssv3482219, nssv3477591, nssv3477934, nssv3464591, nssv3464080, nssv3464067, nssv3463046, nssv3465385, nssv3701275, nssv3466747

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	105
Observed Loss	0
Observed Complex	0
Frequency	n/a