A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500830



Internal ID19088471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178692314..178704939hg38UCSC Ensembl
Innerchr1:178661449..178674074hg19UCSC Ensembl
Innerchr1:176928072..176940697hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3812626
hg1912626
hg1812626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001516
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500830
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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