A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577670



Internal ID16365079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:76392971..76394780hg38UCSC Ensembl
Innerchr18:74104927..74106736hg19UCSC Ensembl
Innerchr18:72233915..72235724hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381810
hg191810
hg181810
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6072n54
Supporting Variantsnssv887473, nssv887421, nssv887453, nssv887446, nssv887417, nssv887411, nssv887429, nssv887451, nssv887422, nssv887424, nssv887452, nssv887454, nssv887407, nssv887469, nssv887455, nssv887431, nssv887460, nssv887445, nssv887479, nssv887419, nssv887415, nssv887461, nssv887467, nssv887427, nssv887412, nssv887468, nssv887442, nssv887426, nssv887477, nssv887441, nssv887439, nssv887472, nssv887440, nssv887448, nssv887462, nssv887410, nssv887436, nssv887443, nssv887438, nssv887459, nssv887425, nssv887423, nssv887435, nssv887449, nssv887418, nssv887484, nssv887420, nssv887475, nssv887471, nssv887416, nssv887480, nssv887447, nssv887476, nssv887444, nssv887430, nssv887478, nssv887464, nssv887428, nssv887474, nssv887408, nssv887470, nssv887466, nssv887463, nssv887414, nssv887458, nssv887456, nssv887437, nssv887457, nssv887413, nssv887409, nssv887483, nssv887450, nssv887432, nssv887465, nssv887481, nssv887433, nssv887482, nssv887434
Samples
Known GenesZNF516
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577670
Frequency
Sample Size17421
Observed Gain58
Observed Loss20
Observed Complex0
Frequencyn/a


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