A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608957



Internal ID16396366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147582083..147586250hg38UCSC Ensembl
Innerchr7:147279175..147283342hg19UCSC Ensembl
Innerchr7:146910108..146914275hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384168
hg194168
hg184168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11708n54
Supporting Variantsnssv1098076, nssv1098077
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608957
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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