A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1027194

Internal ID

19116413

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:8702410..8747030	hg38	UCSC Ensembl
Inner	chr5:8702522..8747142	hg19	UCSC Ensembl
Inner	chr5:8755522..8800142	hg18	UCSC Ensembl

Cytoband

5p15.2

Allele length

Assembly	Allele length
hg38	44621
hg19	44621
hg18	44621

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3746355, nssv3636685, nssv3639722, nssv3639703, nssv3636654, nssv3636683, nssv3639707, nssv3636637, nssv3639734, nssv3636559, nssv3636557, nssv3746368, nssv3639730, nssv3746347, nssv3746340, nssv3746325, nssv3636607, nssv3639735, nssv3636614, nssv3636593, nssv3636594, nssv3636626, nssv3746383, nssv3636651, nssv3636589, nssv3636555, nssv3636682, nssv3636649, nssv3636604, nssv3746384, nssv3636609, nssv3636600, nssv3746372, nssv3639720, nssv3636704, nssv3636561, nssv3639708, nssv3636576, nssv3746367, nssv3636681, nssv3636582, nssv3746387, nssv3636621, nssv3636567, nssv3636577, nssv3636665, nssv3639728, nssv3639726, nssv3636700, nssv3746401, nssv3746359, nssv3636560, nssv3636642, nssv3636641, nssv3746310, nssv3639713, nssv3639696, nssv3636666, nssv3636670, nssv3636677, nssv3746351, nssv3746341, nssv3746378, nssv3636610, nssv3636578, nssv3639701, nssv3746342, nssv3746354, nssv3746328, nssv3636663, nssv3746323, nssv3746322, nssv3636551, nssv3636696, nssv3636652, nssv3746374, nssv3636705, nssv3639705, nssv3746312, nssv3636584, nssv3746407, nssv3746336, nssv3636650, nssv3746305, nssv3746344, nssv3636612, nssv3746329, nssv3746327, nssv3636611, nssv3636574, nssv3746348, nssv3636697, nssv3636550, nssv3636617, nssv3746392, nssv3746360, nssv3636565, nssv3746337, nssv3636674, nssv3636675, nssv3636668, nssv3636591, nssv3639721, nssv3636581, nssv3636676, nssv3636572, nssv3639709, nssv3636655, nssv3636603, nssv3746352, nssv3636679, nssv3639712, nssv3636664, nssv3636580, nssv3636596, nssv3636592, nssv3746399, nssv3636667, nssv3636630, nssv3636698, nssv3636562, nssv3636554, nssv3746320, nssv3639715, nssv3636553, nssv3636638, nssv3636661, nssv3636613, nssv3639724, nssv3636601, nssv3746395, nssv3746318, nssv3636631, nssv3636573, nssv3636691, nssv3639719, nssv3636599, nssv3746386, nssv3636579, nssv3746403, nssv3639697, nssv3746338, nssv3746307, nssv3639718, nssv3639704, nssv3746373, nssv3636672, nssv3639727, nssv3636616, nssv3639723, nssv3636648, nssv3746339, nssv3639741, nssv3636647, nssv3636625, nssv3636709, nssv3636686, nssv3746315, nssv3636706, nssv3636583, nssv3636571, nssv3639731, nssv3639698, nssv3636653, nssv3746311, nssv3636640, nssv3746375, nssv3639700, nssv3746364, nssv3746357, nssv3746388, nssv3636673, nssv3636639, nssv3636569, nssv3636687, nssv3746331, nssv3636678, nssv3636605, nssv3639732, nssv3639711, nssv3636622, nssv3636634, nssv3636566, nssv3636558, nssv3746313, nssv3746343, nssv3746334, nssv3636627, nssv3746346, nssv3746385, nssv3636602, nssv3746321, nssv3636710, nssv3746382, nssv3636658, nssv3636692, nssv3636608, nssv3639740, nssv3636660, nssv3636659, nssv3746363, nssv3636624, nssv3636552, nssv3639710, nssv3636587, nssv3746379, nssv3636590, nssv3636680, nssv3746397, nssv3636645, nssv3636570, nssv3636564, nssv3636595, nssv3636575, nssv3636556, nssv3746333, nssv3746370, nssv3636669, nssv3636623, nssv3746324, nssv3636563, nssv3636615, nssv3636702, nssv3636586, nssv3746356, nssv3636635, nssv3639714, nssv3636703, nssv3746330, nssv3636633, nssv3639742, nssv3636588, nssv3746376, nssv3746402, nssv3639699, nssv3746349, nssv3639717, nssv3746391, nssv3746319, nssv3636643, nssv3639739, nssv3639729, nssv3636568, nssv3746390, nssv3636688, nssv3746371, nssv3746314, nssv3746393, nssv3636671, nssv3746381, nssv3746369, nssv3746377, nssv3746404, nssv3746345, nssv3746308, nssv3636657, nssv3636598, nssv3636618, nssv3746361, nssv3746406, nssv3639716, nssv3746362, nssv3639706, nssv3636646, nssv3636619, nssv3636693, nssv3746353, nssv3746316, nssv3746335, nssv3746398, nssv3636684, nssv3746400, nssv3636628, nssv3639737, nssv3746309, nssv3636689, nssv3636695, nssv3636707, nssv3746365, nssv3636690, nssv3746326, nssv3636629, nssv3639733, nssv3636694, nssv3636549, nssv3636597, nssv3746350, nssv3746332, nssv3636662, nssv3636699, nssv3746396, nssv3639702, nssv3636656, nssv3746306, nssv3746389, nssv3636701, nssv3636708, nssv3636585, nssv3636620, nssv3746317, nssv3636644, nssv3639736, nssv3746394, nssv3636636, nssv3746380, nssv3746405, nssv3639725, nssv3746358, nssv3639738, nssv3636632, nssv3636606, nssv3746366

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	0
Observed Loss	312
Observed Complex	0
Frequency	n/a