A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3492481



Internal ID18733436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204174999..204216444hg38UCSC Ensembl
Innerchr1:204144127..204185572hg19UCSC Ensembl
Innerchr1:202410750..202452195hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3841446
hg1941446
hg1841446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007228
Supporting Variants
Samples
Known GenesGOLT1A, KISS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3492481
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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