A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605385



Internal ID16392794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168193276hg38UCSC Ensembl
Innerchr6:168336080..168593956hg19UCSC Ensembl
Innerchr6:168078929..168336805hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38257877
hg19257877
hg18257877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1077169, nssv1154909, nssv1077162, nssv1077165, nssv1077160, nssv1077164, nssv1077168, nssv1077158, nssv1077167, nssv1077170, nssv1154907, nssv1077159, nssv1154908, nssv1077156, nssv1077163, nssv1077161, nssv1077166, nssv1077157
Samples1780862419_A, NINDS_218, NINDS_184
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)nsv605385
Frequency
Sample Size17421
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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