A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997508



Internal ID19157044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75243979..75283235hg38UCSC Ensembl
Innerchr1:75709664..75748920hg19UCSC Ensembl
Innerchr1:75482252..75521508hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3839257
hg1939257
hg1839257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3463779
Samples
Known GenesSLC44A5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997508
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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