A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012495



Internal ID18755028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69979953..70947088hg38UCSC Ensembl
Innerchr4:70845671..71812805hg19UCSC Ensembl
Innerchr4:70880260..72031669hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38967136
hg19967135
hg181151410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3742866
Samples
Known GenesAMBN, AMTN, C4orf40, CABS1, CSN1S2AP, CSN1S2BP, CSN3, ENAM, FDCSP, GRSF1, HTN1, HTN3, IGJ, MOB1B, MUC7, ODAM, PROL1, RUFY3, SMR3A, SMR3B, STATH, UTP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012495
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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