A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019300



Internal ID18761834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146955070..146983237hg38UCSC Ensembl
Innerchr7:146652162..146680329hg19UCSC Ensembl
Innerchr7:146283095..146311262hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3828168
hg1928168
hg1828168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757719
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)nsv1019300
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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