A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605388



Internal ID16392797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168198653hg38UCSC Ensembl
Innerchr6:168336080..168599333hg19UCSC Ensembl
Innerchr6:168078929..168342182hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38263254
hg19263254
hg18263254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1077196, nssv1077198, nssv1077189, nssv1077193, nssv1077190, nssv1077192, nssv1154919, nssv1077195, nssv1077186, nssv1077187, nssv1077191, nssv1077194, nssv1154920, nssv1077197, nssv1077188
Samples1780854556_A, 1780862334_A
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605388
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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