A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3655049



Internal ID18953330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4810816..4981812hg38UCSC Ensembl
Innerchr7:4850447..5021443hg19UCSC Ensembl
Innerchr7:4816973..4987969hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38170997
hg19170997
hg18170997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025467
Supporting Variants
Samples
Known GenesMMD2, PAPOLB, RADIL, RNF216P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3655049
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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