A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv729770



Internal ID15677040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183151893..183208319hg38UCSC Ensembl
Innerchr1:183121028..183177454hg19UCSC Ensembl
Innerchr1:181387651..181444077hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3856427
hg1956427
hg1856427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548375
Supporting Variants
Samples
Known GenesLAMC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv729770
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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