A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv591146

Internal ID

16378555

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:99909978..99910723	hg38	UCSC Ensembl
Inner	chr3:99628822..99629567	hg19	UCSC Ensembl
Inner	chr3:101111512..101112257	hg18	UCSC Ensembl

Cytoband

3q12.1

Allele length

Assembly	Allele length
hg38	746
hg19	746
hg18	746

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv970637, nssv970654, nssv970484, nssv970403, nssv970613, nssv970533, nssv970427, nssv970608, nssv970470, nssv970400, nssv970602, nssv970593, nssv970660, nssv970667, nssv970467, nssv970505, nssv970656, nssv970500, nssv970579, nssv970426, nssv970430, nssv970571, nssv970545, nssv970398, nssv970567, nssv970482, nssv970560, nssv970489, nssv970469, nssv970476, nssv970498, nssv970487, nssv970559, nssv970456, nssv970554, nssv970539, nssv970461, nssv970642, nssv970527, nssv970526, nssv970600, nssv970453, nssv970420, nssv970588, nssv970511, nssv970628, nssv970462, nssv970604, nssv970501, nssv970623, nssv970601, nssv970396, nssv970460, nssv970618, nssv970454, nssv970629, nssv970444, nssv970590, nssv970633, nssv970649, nssv970506, nssv970507, nssv970614, nssv970515, nssv970510, nssv970540, nssv970551, nssv970422, nssv970592, nssv970546, nssv970417, nssv970563, nssv970483, nssv970478, nssv970439, nssv970569, nssv970423, nssv970639, nssv970522, nssv970424, nssv970561, nssv970521, nssv970509, nssv970492, nssv970459, nssv970394, nssv970630, nssv970495, nssv970529, nssv970408, nssv970477, nssv970651, nssv970542, nssv970409, nssv970435, nssv970428, nssv970575, nssv970597, nssv970441, nssv970568, nssv970617, nssv970475, nssv970583, nssv970437, nssv970433, nssv970463, nssv970578, nssv970662, nssv970480, nssv970557, nssv970458, nssv970465, nssv970525, nssv970471, nssv970562, nssv970514, nssv970577, nssv970663, nssv970570, nssv970451, nssv970504, nssv970472, nssv970621, nssv970432, nssv970565, nssv970566, nssv970531, nssv970658, nssv970412, nssv970638, nssv970591, nssv970414, nssv970491, nssv970415, nssv970646, nssv970640, nssv970606, nssv970524, nssv970502, nssv970497, nssv970534, nssv970425, nssv970636, nssv970553, nssv970517, nssv970486, nssv970661, nssv970474, nssv970589, nssv970556, nssv970431, nssv970647, nssv970626, nssv970421, nssv970643, nssv970442, nssv970616, nssv970594, nssv970395, nssv970452, nssv970402, nssv970659, nssv970407, nssv970405, nssv970496, nssv970648, nssv970564, nssv970530, nssv970572, nssv970450, nssv970585, nssv970586, nssv970410, nssv970481, nssv970666, nssv970595, nssv970549, nssv970605, nssv970574, nssv970624, nssv970397, nssv970464, nssv970550, nssv970455, nssv970610, nssv970619, nssv970436, nssv970411, nssv970468, nssv970448, nssv970541, nssv970418, nssv970434, nssv970393, nssv970635, nssv970516, nssv970499, nssv970664, nssv970657, nssv970582, nssv970576, nssv970447, nssv970668, nssv970538, nssv970523, nssv970611, nssv970587, nssv970652, nssv970479, nssv970644, nssv970513, nssv970632, nssv970493, nssv970650, nssv970599, nssv970512, nssv970490, nssv970622, nssv970404, nssv970612, nssv970555, nssv970494, nssv970665, nssv970429, nssv970607, nssv970655, nssv970508, nssv970443, nssv970419, nssv970547, nssv970406, nssv970438, nssv970449, nssv970584, nssv970518, nssv970625, nssv970598, nssv970528, nssv970401, nssv970634, nssv970552, nssv970485, nssv970473, nssv970620, nssv970519, nssv970488, nssv970520, nssv970536, nssv970573, nssv970503, nssv970466, nssv970645, nssv970641, nssv970581, nssv970615, nssv970558, nssv970399, nssv970609, nssv970532, nssv970413, nssv970440, nssv970446, nssv970537, nssv970653, nssv970627, nssv970543, nssv970457, nssv970535, nssv970548, nssv970580, nssv970669, nssv970596, nssv970445, nssv970631, nssv970603, nssv970544, nssv970416

Samples

Known Genes

CMSS1, FILIP1L, MIR548G

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

Accession Number(s)

Frequency

Sample Size	17421
Observed Gain	1
Observed Loss	276
Observed Complex	0
Frequency	n/a