A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606781



Internal ID16047504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226995..44227484hg38UCSC Ensembl
Innerchr7:44266594..44267083hg19UCSC Ensembl
Innerchr7:44233119..44233608hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38490
hg19490
hg18490
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11306n54
Supporting Variantsnssv1083413, nssv1083415, nssv1083417, nssv1083420, nssv1083419, nssv1083421, nssv1083414, nssv1083418, nssv1083416
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606781
Frequency
Sample Size17421
Observed Gain5
Observed Loss4
Observed Complex0
Frequencyn/a


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