A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606768



Internal ID16047491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226790..44227425hg38UCSC Ensembl
Innerchr7:44266389..44267024hg19UCSC Ensembl
Innerchr7:44232914..44233549hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11304n54
Supporting Variantsnssv1083274, nssv1083276, nssv1083281, nssv1083280, nssv1083275, nssv1083283, nssv1083278, nssv1083279, nssv1083284, nssv1083285, nssv1083277, nssv1083282
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606768
Frequency
Sample Size17421
Observed Gain8
Observed Loss4
Observed Complex0
Frequencyn/a


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