A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596838



Internal ID16384247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1178396..1180310hg38UCSC Ensembl
Innerchr5:1178511..1180425hg19UCSC Ensembl
Innerchr5:1231511..1233425hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381915
hg191915
hg181915
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9531n54
Supporting Variantsnssv1021645, nssv1021671, nssv1021599, nssv1021654, nssv1021614, nssv1021668, nssv1021656, nssv1021607, nssv1021636, nssv1021613, nssv1021629, nssv1021652, nssv1021634, nssv1021630, nssv1021649, nssv1021640, nssv1021628, nssv1021669, nssv1021600, nssv1021647, nssv1021646, nssv1021662, nssv1021637, nssv1021619, nssv1021617, nssv1021618, nssv1021658, nssv1021598, nssv1021612, nssv1021601, nssv1021659, nssv1021620, nssv1021635, nssv1021667, nssv1021648, nssv1021627, nssv1021603, nssv1021663, nssv1021638, nssv1021674, nssv1021661, nssv1021621, nssv1021605, nssv1021644, nssv1021604, nssv1021596, nssv1021633, nssv1021622, nssv1021616, nssv1021615, nssv1021666, nssv1021626, nssv1021653, nssv1021609, nssv1021655, nssv1021670, nssv1021625, nssv1021602, nssv1021673, nssv1021665, nssv1021651, nssv1021597, nssv1021623, nssv1021672, nssv1021642, nssv1021664, nssv1021643, nssv1021611, nssv1021657, nssv1021606, nssv1021641, nssv1021610, nssv1021675, nssv1021632, nssv1021660, nssv1021608, nssv1021624, nssv1021650, nssv1021639, nssv1021631
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596838
Frequency
Sample Size17421
Observed Gain4
Observed Loss76
Observed Complex0
Frequencyn/a


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