A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544977



Internal ID15985700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1334606..1351747hg38UCSC Ensembl
Innerchr1:1269986..1287127hg19UCSC Ensembl
Innerchr1:1259849..1276990hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3817142
hg1917142
hg1817142
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708539, nssv708538
Samples
Known GenesDVL1, MIR6808
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544977
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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