A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3657348



Internal ID18608943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34527594..34550080hg38UCSC Ensembl
Innerchr6:34495371..34517857hg19UCSC Ensembl
Innerchr6:34603349..34625835hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3822487
hg1922487
hg1822487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026919
Supporting Variants
Samples
Known GenesPACSIN1, SPDEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3657348
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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