A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020023



Internal ID18762558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162195980..162649773hg38UCSC Ensembl
Innerchr6:162617012..163070805hg19UCSC Ensembl
Innerchr6:162537002..162990795hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38453794
hg19453794
hg18453794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6178n100
Supporting Variantsnssv3749588
Samples
Known GenesPARK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020023
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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