A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3637053



Internal ID18588648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33921280..33990689hg38UCSC Ensembl
Innerchr5:33921385..33990794hg19UCSC Ensembl
Innerchr5:33957142..34026551hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3869410
hg1969410
hg1869410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019937
Supporting Variants
Samples
Known GenesAMACR, C1QTNF3-AMACR, RXFP3, SLC45A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3637053
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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