A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606753



Internal ID16047476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44223429..44227374hg38UCSC Ensembl
Innerchr7:44263028..44266973hg19UCSC Ensembl
Innerchr7:44229553..44233498hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383946
hg193946
hg183946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11298n54
Supporting Variantsnssv1083233
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606753
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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