A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608934



Internal ID16396343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146498360..146570165hg38UCSC Ensembl
Innerchr7:146195452..146267257hg19UCSC Ensembl
Innerchr7:145826385..145898190hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3871806
hg1971806
hg1871806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11703n54
Supporting Variantsnssv1097941
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608934
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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