A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608938



Internal ID16396347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146530532..146567475hg38UCSC Ensembl
Innerchr7:146227624..146264567hg19UCSC Ensembl
Innerchr7:145858557..145895500hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3836944
hg1936944
hg1836944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11704n54
Supporting Variantsnssv1097947
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608938
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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