A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608935



Internal ID16396344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146528356..146557568hg38UCSC Ensembl
Innerchr7:146225448..146254660hg19UCSC Ensembl
Innerchr7:145856381..145885593hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3829213
hg1929213
hg1829213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11704n54
Supporting Variantsnssv1155919, nssv1097944, nssv1155920, nssv1097945, nssv1097942, nssv1155921, nssv1097943
Samples1780854296_A, 1780862260_A, HGDP01058
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608935
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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