A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000208



Internal ID19089425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11526528..11558535hg38UCSC Ensembl
Innerchr1:11586585..11618592hg19UCSC Ensembl
Innerchr1:11509172..11541179hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3832008
hg1932008
hg1832008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv18n100
Supporting Variantsnssv3464142
Samples
Known GenesPTCHD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000208
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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