A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516212



Internal ID15096819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70955881..71002810hg38UCSC Ensembl
Innerchr1:71421564..71468493hg19UCSC Ensembl
Innerchr1:71194152..71241081hg18UCSC Ensembl
Innerchr1:71133585..71180514hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3846930
hg1946930
hg1846930
hg1746930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666846, nssv680621, nssv655781
Samples
Known GenesPTGER3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516212
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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