A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027049



Internal ID18769581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:70251907..70851785hg38UCSC Ensembl
Innerchr6:70961610..71561488hg19UCSC Ensembl
Innerchr6:71018331..71618209hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38599879
hg19599879
hg18599879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3747081
Samples
Known GenesC6orf57, COL9A1, FAM135A, SMAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027049
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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