A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011078



Internal ID19100295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53291070..53385493hg38UCSC Ensembl
Innerchr1:53756742..53851165hg19UCSC Ensembl
Innerchr1:53529330..53623753hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3894424
hg1994424
hg1894424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165n100
Supporting Variantsnssv3701229, nssv3701230
Samples
Known GenesLRP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011078
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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