A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000188



Internal ID18742719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64263100..64546875hg38UCSC Ensembl
Innerchr1:64728783..65012558hg19UCSC Ensembl
Innerchr1:64501371..64785146hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38283776
hg19283776
hg18283776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3464112
Samples
Known GenesCACHD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000188
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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