A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034037



Internal ID18776571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55357611..56204802hg38UCSC Ensembl
Innerchr6:55222409..56069600hg19UCSC Ensembl
Innerchr6:55330368..56177559hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38847192
hg19847192
hg18847192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3657491
Samples
Known GenesBMP5, COL21A1, GFRAL, HMGCLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034037
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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