A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1072648



Internal ID15579148
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 StatusS
Merged Variantsnsv604663
Supporting Variants
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)nssv1072648
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer