A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173925



Internal ID15527878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178700536..178874759hg38UCSC Ensembl
Innerchr1:178669671..178843894hg19UCSC Ensembl
Innerchr1:176936294..177110517hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38174224
hg19174224
hg18174224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548265
Supporting Variants
SamplesHGDP00554
Known GenesANGPTL1, RALGPS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173925
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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