A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000921



Internal ID18743452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25269902..25335709hg38UCSC Ensembl
Innerchr1:25596393..25662200hg19UCSC Ensembl
Innerchr1:25468980..25534787hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3865808
hg1965808
hg1865808
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137n100
Supporting Variantsnssv3474504, 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 GenesRHD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000921
Frequency
Sample Size29084
Observed Gain2
Observed Loss243
Observed Complex0
Frequencyn/a


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