A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999027



Internal ID19158563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11526528..11559881hg38UCSC Ensembl
Innerchr1:11586585..11619938hg19UCSC Ensembl
Innerchr1:11509172..11542525hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3833354
hg1933354
hg1833354
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv18n100
Supporting Variantsnssv3479759
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)nsv999027
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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