A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3674221



Internal ID18972502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147002554..147059329hg38UCSC Ensembl
Innerchr7:146699646..146756421hg19UCSC Ensembl
Innerchr7:146330579..146387354hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3856776
hg1956776
hg1856776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029188
Supporting Variants
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)nssv3674221
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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