A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000135



Internal ID18742666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175461063..175796653hg38UCSC Ensembl
Innerchr1:175430199..175765789hg19UCSC Ensembl
Innerchr1:173696822..174032412hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38335591
hg19335591
hg18335591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv466n100
Supporting Variantsnssv3482969
Samples
Known GenesTNR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000135
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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