A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033175



Internal ID19122397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147004988..147056379hg38UCSC Ensembl
Innerchr7:146702080..146753471hg19UCSC Ensembl
Innerchr7:146333013..146384404hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3851392
hg1951392
hg1851392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6749n100
Supporting Variantsnssv3674222
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033175
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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