A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1000921

Internal ID

18743452

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:25269902..25335709	hg38	UCSC Ensembl
Inner	chr1:25596393..25662200	hg19	UCSC Ensembl
Inner	chr1:25468980..25534787	hg18	UCSC Ensembl

Cytoband

1p36.11

Allele length

Assembly	Allele length
hg38	65808
hg19	65808
hg18	65808

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3474504, nssv3482622, nssv3469449, nssv3468998, nssv3700565, nssv3472922, nssv3477337, nssv3700517, nssv3465482, nssv3700532, nssv3480390, nssv3700499, nssv3471651, nssv3700545, nssv3482165, nssv3466634, nssv3700528, nssv3700576, nssv3700572, nssv3700540, nssv3476946, nssv3700492, nssv3700559, nssv3700533, nssv3700581, nssv3470546, nssv3465860, nssv3466350, nssv3700521, nssv3463625, nssv3477940, nssv3468886, nssv3478643, nssv3466142, nssv3700508, nssv3700577, nssv3466628, nssv3480675, nssv3700520, nssv3700496, nssv3700507, nssv3475636, nssv3477430, nssv3477405, nssv3468051, nssv3471166, nssv3700587, nssv3468661, nssv3700504, nssv3700538, nssv3467094, nssv3700519, nssv3468540, nssv3700552, nssv3463385, nssv3468857, nssv3468044, nssv3463445, nssv3700556, nssv3700515, nssv3465182, nssv3479132, nssv3700560, nssv3700516, nssv3463266, nssv3470258, nssv3467237, nssv3479446, nssv3468211, nssv3464531, nssv3700551, nssv3700523, nssv3479163, nssv3700536, nssv3700493, nssv3469430, nssv3466085, nssv3473215, nssv3700541, nssv3700558, nssv3471289, nssv3700584, nssv3467886, nssv3466037, nssv3473270, nssv3470455, nssv3700542, nssv3465608, nssv3479232, nssv3478980, nssv3700525, nssv3700567, nssv3700563, nssv3463619, nssv3700550, nssv3700549, nssv3700510, nssv3473542, nssv3464371, nssv3463795, nssv3479447, nssv3467484, nssv3700505, nssv3462803, nssv3476813, nssv3469021, nssv3700570, nssv3467353, nssv3472623, nssv3468159, nssv3467572, nssv3700573, nssv3700529, nssv3478973, nssv3700506, nssv3478207, nssv3468183, nssv3700526, nssv3478502, nssv3470056, nssv3465749, nssv3465600, nssv3700548, nssv3477637, nssv3464616, nssv3480542, nssv3700502, nssv3700524, nssv3700514, nssv3700554, nssv3700553, nssv3466888, nssv3470368, nssv3467944, nssv3463289, nssv3465865, nssv3479650, nssv3465598, nssv3466609, nssv3478229, nssv3700586, nssv3700500, nssv3700561, nssv3474301, nssv3465861, nssv3700562, nssv3700578, nssv3700539, nssv3700535, nssv3475691, nssv3463359, nssv3470890, nssv3700501, nssv3468828, nssv3700580, nssv3478339, nssv3700583, nssv3466309, nssv3477383, nssv3464794, nssv3477377, nssv3478703, nssv3477970, nssv3700531, nssv3469313, nssv3465308, nssv3482422, nssv3470398, nssv3471980, nssv3467254, nssv3700509, nssv3464131, nssv3482440, nssv3477908, nssv3472712, nssv3700569, nssv3700495, nssv3465427, nssv3700564, nssv3482671, nssv3700585, nssv3471774, nssv3481951, nssv3700557, nssv3479162, nssv3471174, nssv3473871, nssv3477371, nssv3700511, nssv3472349, nssv3700544, nssv3700512, nssv3700582, nssv3700575, nssv3471383, nssv3480606, nssv3700579, nssv3470729, nssv3466341, nssv3700537, nssv3478338, nssv3700555, nssv3700494, nssv3700530, nssv3700571, nssv3700498, nssv3467964, nssv3472295, nssv3479341, nssv3472088, nssv3470547, nssv3700568, nssv3481610, nssv3471050, nssv3474590, nssv3481244, nssv3700546, nssv3464845, nssv3471152, nssv3478660, nssv3465238, nssv3478148, nssv3474110, nssv3471577, nssv3700543, nssv3700518, nssv3472559, nssv3700522, nssv3700547, nssv3700497, nssv3700574, nssv3471441, nssv3700503, nssv3470705, nssv3469305, nssv3479603, nssv3471072, nssv3700566, nssv3464827, nssv3700527, nssv3471726, nssv3700513, nssv3700534, nssv3481864, nssv3477917

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	2
Observed Loss	243
Observed Complex	0
Frequency	n/a