A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018679



Internal ID18761212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168196667hg38UCSC Ensembl
Innerchr6:168335278..168597347hg19UCSC Ensembl
Innerchr6:168078127..168340196hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38262070
hg19262070
hg18262070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6199n100
Supporting Variantsnssv3749693, nssv3653001, nssv3749702, nssv3749696, nssv3653006, nssv3749698, nssv3652992, nssv3749679, nssv3749689, nssv3749682, nssv3749700, nssv3749697, nssv3652989, nssv3749683, nssv3652994, nssv3749680, nssv3652999, nssv3652997, nssv3653004, nssv3749701, nssv3653011, nssv3653008, nssv3749688, nssv3749685, nssv3652991, nssv3652983, nssv3749690, nssv3652985, nssv3652995, nssv3749692, nssv3653009, nssv3652988, nssv3652984, nssv3749681, nssv3653007, nssv3652982, nssv3653003, nssv3749678, nssv3652993, nssv3652981, nssv3653000, nssv3652978, nssv3653002, nssv3652986, nssv3652979, nssv3749687, nssv3652987, nssv3749703, nssv3652990, nssv3749686, nssv3653012, nssv3652996, nssv3749691, nssv3653010, nssv3749695, nssv3652998, nssv3749694, nssv3749684, nssv3652980, nssv3653005, nssv3749699
Samples
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018679
Frequency
Sample Size29084
Observed Gain61
Observed Loss0
Observed Complex0
Frequencyn/a


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