A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3564066



Internal ID18862347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2724932..2768580hg38UCSC Ensembl
Innerchr18:2724930..2768578hg19UCSC Ensembl
Innerchr18:2714930..2758578hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3843649
hg1943649
hg1843649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059639
Supporting Variants
Samples
Known GenesSMCHD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3564066
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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