A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013524



Internal ID18756055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:939510..1161955hg38UCSC Ensembl
Innerchr1:874890..1097335hg19UCSC Ensembl
Innerchr1:864753..1087198hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38222446
hg19222446
hg18222446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3475564
Samples
Known GenesAGRN, C1orf159, C1orf170, HES4, ISG15, KLHL17, LOC254099, NOC2L, PLEKHN1, RNF223, SAMD11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013524
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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