A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585673



Internal ID18537268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213267855..213302172hg38UCSC Ensembl
Innerchr2:214132579..214166896hg19UCSC Ensembl
Innerchr2:213840824..213875141hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3834318
hg1934318
hg1834318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013206
Supporting Variants
Samples
Known GenesLOC100130451, SPAG16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3585673
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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