A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030270



Internal ID19119489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104174067..104198413hg38UCSC Ensembl
Innerchr5:103509768..103534114hg19UCSC Ensembl
Innerchr5:103537667..103562013hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3824347
hg1924347
hg1824347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5753n100
Supporting Variantsnssv3645921, nssv3645955, nssv3748336, nssv3645926, nssv3645931, nssv3645936, nssv3748334, nssv3645927, nssv3645935, nssv3645922, nssv3748333, nssv3645951, nssv3645940, nssv3645920, nssv3645956, nssv3748330, nssv3748332, nssv3645932, nssv3645954, nssv3748328, nssv3645939, nssv3645924, nssv3645948, nssv3645945, nssv3748339, nssv3645928, nssv3748337, nssv3748338, nssv3645929, nssv3645952, nssv3645949, nssv3645943, nssv3748335, nssv3645950, nssv3746466, nssv3645937, nssv3645958, nssv3645947, nssv3748326, nssv3645946, nssv3748331, nssv3645941, nssv3748340, nssv3645957, nssv3748327, nssv3645953, nssv3645925, nssv3645934, nssv3748329, nssv3645923, nssv3645944, nssv3645933, nssv3748325, nssv3645942, nssv3645930, nssv3645938
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)nsv1030270
Frequency
Sample Size11257
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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