A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606893



Internal ID16047616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:47877897..48315223hg38UCSC Ensembl
Innerchr7:47917495..48354820hg19UCSC Ensembl
Innerchr7:47884020..48325366hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38437327
hg19437326
hg18441347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154932
SamplesHGDP01385
Known GenesABCA13, C7orf57, HUS1, PKD1L1, SUN3, UPP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606893
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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