A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3757720



Internal ID19056001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147408057..147441033hg38UCSC Ensembl
Innerchr7:147105149..147138125hg19UCSC Ensembl
Innerchr7:146736082..146769058hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3832977
hg1932977
hg1832977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024540
Supporting Variants
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3757720
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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