A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006388



Internal ID19095605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11526528..11570371hg38UCSC Ensembl
Innerchr1:11586585..11630428hg19UCSC Ensembl
Innerchr1:11509172..11553015hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3843844
hg1943844
hg1843844
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv18n100
Supporting Variantsnssv3467308
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)nsv1006388
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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