A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997350



Internal ID19156888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70951490..70993278hg38UCSC Ensembl
Innerchr1:71417173..71458961hg19UCSC Ensembl
Innerchr1:71189761..71231549hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3841789
hg1941789
hg1841789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv177n100
Supporting Variantsnssv3466666, nssv3477992
Samples
Known GenesPTGER3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997350
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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