A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604663



Internal ID16045386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129482340..130671010hg38UCSC Ensembl
Innerchr6:129803485..130992155hg19UCSC Ensembl
Innerchr6:129845178..131033848hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg381188671
hg191188671
hg181188671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1072648
Samples
Known GenesARHGAP18, L3MBTL3, LAMA2, SAMD3, TMEM200A, TMEM244
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604663
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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