A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592645



Internal ID16033368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178832458..178850341hg38UCSC Ensembl
Innerchr3:178550246..178568129hg19UCSC Ensembl
Innerchr3:180032940..180050823hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3817884
hg1917884
hg1817884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv982488, nssv982476, nssv982431, nssv982418, nssv982505, nssv982425, nssv982421, nssv982451, nssv982492, nssv982489, nssv982423, nssv982461, nssv982503, nssv982483, nssv982486, nssv982444, nssv982437, nssv982479, nssv982457, nssv982475, nssv982446, nssv982487, nssv982458, nssv982455, nssv982429, nssv982478, nssv982440, nssv982452, nssv982482, nssv982417, nssv982442, nssv982430, nssv982495, nssv982494, nssv982464, nssv982416, nssv982490, nssv982470, nssv982454, nssv982448, nssv982499, nssv982466, nssv982435, nssv982472, nssv982453, nssv982438, nssv982481, nssv982424, nssv982463, nssv982422, nssv982465, nssv982491, nssv982477, nssv982449, nssv982443, nssv982502, nssv982427, nssv982462, nssv982460, nssv982469, nssv982484, nssv982428, nssv982496, nssv982432, nssv982459, nssv982467, nssv982426, nssv982480, nssv982456, nssv982439, nssv982497, nssv982468, nssv982450, nssv982445, nssv982420, nssv982419, nssv982436, nssv982447, nssv982500, nssv982498, nssv982441, nssv982501, nssv982473, nssv982471, nssv982434, nssv982504, nssv982493, nssv982474, nssv982433, nssv982485
Samples
Known GenesKCNMB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592645
Frequency
Sample Size17421
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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