A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608964



Internal ID16049687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147587023..147587260hg38UCSC Ensembl
Innerchr7:147284115..147284352hg19UCSC Ensembl
Innerchr7:146915048..146915285hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1098084, nssv1098092, nssv1098094, nssv1098096, nssv1098089, nssv1098087, nssv1098088, nssv1098085, nssv1098097, nssv1098090, nssv1098093, nssv1098091, nssv1098095, nssv1098086
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608964
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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