A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500734



Internal ID19088375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143567307..143934622hg38UCSC Ensembl
Innerchr1:149061968..149429194hg19UCSC Ensembl
Innerchr1:147328592..147695818hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38367316
hg19367227
hg18367227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002473
Supporting Variants
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500734
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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