A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3749036



Internal ID18700631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17457369..17630059hg38UCSC Ensembl
Innerchr6:17457600..17630290hg19UCSC Ensembl
Innerchr6:17565579..17738269hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38172691
hg19172691
hg18172691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027813
Supporting Variants
Samples
Known GenesCAP2, FAM8A1, NUP153
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3749036
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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