A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3494082



Internal ID18735037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180245017..180270535hg38UCSC Ensembl
Innerchr1:180214152..180239670hg19UCSC Ensembl
Innerchr1:178480775..178506293hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3825519
hg1925519
hg1825519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013076
Supporting Variants
Samples
Known GenesLHX4, LOC100527964
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3494082
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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