A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027561



Internal ID18770093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146611691..147065780hg38UCSC Ensembl
Innerchr7:146308783..146762872hg19UCSC Ensembl
Innerchr7:145939716..146393805hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38454090
hg19454090
hg18454090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757718
Samples
Known GenesCNTNAP2, MIR548AQ, MIR548AR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027561
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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