A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606791



Internal ID16047514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227100..44227322hg38UCSC Ensembl
Innerchr7:44266699..44266921hg19UCSC Ensembl
Innerchr7:44233224..44233446hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38223
hg19223
hg18223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11308n54
Supporting Variantsnssv1083501, nssv1083508, nssv1083504, nssv1083506, nssv1083507, nssv1083505, nssv1083502, nssv1083503
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606791
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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