A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019527



Internal ID18762062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29722658..30413302hg38UCSC Ensembl
Innerchr7:29762274..30452918hg19UCSC Ensembl
Innerchr7:29728799..30419443hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38690645
hg19690645
hg18690645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643348
Samples
Known GenesDKFZP586I1420, FKBP14, LOC100506516, MIR550A1, MIR550B1, MTURN, PLEKHA8, SCRN1, WIPF3, ZNRF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019527
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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