A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047319



Internal ID19136538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:44712945..44754498hg38UCSC Ensembl
Innerchr14:45182148..45223701hg19UCSC Ensembl
Innerchr14:44251898..44293451hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3841554
hg1941554
hg1841554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1903n100
Supporting Variantsnssv3713450, nssv3712328, nssv3530406, nssv3530399, nssv3713455, nssv3530416, nssv3530397, nssv3530357, nssv3530348, nssv3530398, nssv3530422, nssv3713452, nssv3712336, nssv3530365, nssv3530368, nssv3530364, nssv3530355, nssv3530412, nssv3530376, nssv3530385, nssv3712337, nssv3530395, nssv3530371, nssv3712332, nssv3530420, nssv3530414, nssv3530373, nssv3713460, nssv3713456, nssv3713447, nssv3530347, nssv3713454, nssv3530377, nssv3530419, nssv3530384, nssv3713461, nssv3530379, nssv3712338, nssv3530349, nssv3530350, nssv3530396, nssv3530405, nssv3712329, nssv3530423, nssv3530394, nssv3713464, nssv3530410, nssv3530341, nssv3530386, nssv3713449, nssv3530411, nssv3530380, nssv3530407, nssv3530401, nssv3712335, nssv3530421, nssv3530343, nssv3713459, nssv3712330, nssv3530375, nssv3530346, nssv3530391, nssv3530388, nssv3530359, nssv3530345, nssv3530370, nssv3530372, nssv3530342, nssv3530403, nssv3530351, nssv3530340, nssv3530363, nssv3712339, nssv3530356, nssv3712334, nssv3530382, nssv3712333, nssv3530389, nssv3530378, nssv3713458, nssv3530408, nssv3530354, nssv3530413, nssv3530344, nssv3713453, nssv3530383, nssv3530390, nssv3530387, nssv3530366, nssv3530417, nssv3530393, nssv3530360, nssv3530402, nssv3530361, nssv3530374, nssv3530404, nssv3530353, nssv3530358, nssv3530352, nssv3713451, nssv3713457, nssv3530367, nssv3530362, nssv3713462, nssv3713463, nssv3530369, nssv3530418, nssv3530392, nssv3712331, nssv3530415, nssv3530400, nssv3713448, nssv3530381, nssv3530409
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047319
Frequency
Sample Size11257
Observed Gain0
Observed Loss114
Observed Complex0
Frequencyn/a


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