A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3604533



Internal ID18556128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123876493..123958230hg38UCSC Ensembl
Innerchr3:123595340..123677077hg19UCSC Ensembl
Innerchr3:125078030..125159767hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3881738
hg1981738
hg1881738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007525
Supporting Variants
Samples
Known GenesCCDC14, MYLK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3604533
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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