A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608068



Internal ID16048791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:104981955..105117036hg38UCSC Ensembl
Innerchr7:104622402..104757483hg19UCSC Ensembl
Innerchr7:104409638..104544719hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38135082
hg19135082
hg18135082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092077
Samples
Known GenesKMT2E, KMT2E-AS1, LINC01004, SRPK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608068
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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