A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034510



Internal ID18777044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147022881..147151489hg38UCSC Ensembl
Innerchr7:146719973..146848581hg19UCSC Ensembl
Innerchr7:146350906..146479514hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38128609
hg19128609
hg18128609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674227
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)nsv1034510
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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