A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478188



Internal ID19067959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48350168..48398303hg38UCSC Ensembl
Innerchr1:48815840..48863975hg19UCSC Ensembl
Innerchr1:48588427..48636562hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3848136
hg1948136
hg1848136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008621
Supporting Variants
Samples
Known GenesSPATA6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3478188
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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