A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550755



Internal ID16338164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46332377hg38UCSC Ensembl
Innerchr10:47543322..47703613hg19UCSC Ensembl
Innerchr10:47013328..47173619hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38160292
hg19160292
hg18160292
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1112n54
Supporting Variantsnssv1173643, nssv1174449, nssv1174499, nssv1174450, nssv1173646, nssv747512, nssv747513, nssv747504, nssv747515, nssv747484, nssv747456, nssv1174461, nssv747461, nssv1174489, nssv1174444, nssv747469, nssv1174479, nssv1174464, nssv747464, nssv747460, nssv747479, nssv747502, nssv1174478, nssv747467, nssv747449, nssv1174500, nssv747451, nssv1174484, nssv1173644, nssv747517, nssv747519, nssv1174466, nssv1174458, nssv1174495, nssv1174446, nssv747445, nssv1174475, nssv747483, nssv747509, nssv1174451, nssv1174448, nssv1174488, nssv1174482, nssv747447, nssv747485, nssv1174472, nssv747450, nssv747494, nssv1174439, nssv1173641, nssv747495, nssv747473, nssv747463, nssv1174487, nssv747472, nssv747482, nssv1174497, nssv1174473, nssv1174468, nssv1174442, nssv747455, nssv747459, nssv747493, nssv1174465, nssv747501, nssv1174460, nssv747492, nssv1174498, nssv747522, nssv747524, nssv747518, nssv747505, nssv747454, nssv1174486, nssv1174467, nssv1174463, nssv747496, nssv747487, nssv1174456, nssv747476, nssv747465, nssv747477, nssv747514, nssv1174454, nssv1174453, nssv1174476, nssv747507, nssv747468, nssv1174462, nssv747497, nssv1174437, nssv1174452, nssv1174438, nssv1174469, nssv1174501, nssv747452, nssv747444, nssv747521, nssv747453, nssv1174470, nssv1174494, nssv1174474, nssv1174459, nssv747480, nssv747462, nssv1174447, nssv1173638, nssv1174480, nssv747516, nssv1173642, nssv1174496, nssv1174492, nssv747491, nssv747498, nssv1173639, nssv1174483, nssv1174491, nssv1173637, nssv747503, nssv747474, nssv1174477, nssv1174443, nssv747510, nssv747499, nssv1174441, nssv747523, nssv747457, nssv1173640, nssv1174485, nssv747448, nssv1174436, nssv1173645, nssv747466, nssv747486, nssv747471, nssv1174455, nssv747490, nssv747489, nssv747481, nssv747520, nssv747478, nssv747508, nssv1174490, nssv1174440, nssv747506, nssv747470, nssv747525, nssv747446, nssv747500, nssv1174471, nssv747488, nssv747458, nssv1174481, nssv747511, nssv1174493, nssv1174457, nssv1174445, nssv747475
Samples1780862599_A, 1780854538_A, NINDS_243, HGDP00759, 1780854556_A, HGDP00650, HGDP00108, HGDP00445, HGDP00739, HGDP01248, HGDP00154, 1780862433_A, HGDP00462, HGDP00731, HGDP00226, 1780854537_A, 1780854517_A, HGDP00189, HGDP00140, 1798860084_A, HGDP00895, HGDP00640, 1782681117_A, 1798860114_A, HGDP00476, 1798860191_A, 1780862480_A, HGDP00883, HGDP01155, HGDP00526, HGDP00896, 1787431198_A, 1782681086_A, 1782681076_A, HGDP00607, HGDP00612, HGDP00626, HGDP00423, 1780862416_A, HGDP00882, 1780862160_A, 1780854039_A, HGDP00649, HGDP01332, 1780862410_A, 1782681093_A, HGDP01253, HGDP00625, 1780854216_A, HGDP00886, HGDP01359, 1780854477_A, 1798860565_A, HGDP00577, HGDP00039, HGDP00790, HGDP00996, HGDP00742, 1780854464_A, 1780854382_A, HGDP00600, 1780862207_A, HGDP01156, HGDP00677, 1780862252_A, 1780854441_A, HGDP00025, HGDP00254, HGDP00007, 1780854393_A, HGDP01000, 1798860570_A, 1780862304_A, HGDP00901, HGDP00338, 1780854463_A
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550755
Frequency
Sample Size17421
Observed Gain149
Observed Loss9
Observed Complex0
Frequencyn/a


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