A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606522



Internal ID16393931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31032771..31076553hg38UCSC Ensembl
Innerchr7:31072386..31116168hg19UCSC Ensembl
Innerchr7:31038911..31082693hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3843783
hg1943783
hg1843783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11257n54
Supporting Variantsnssv1154929
Samples1780854340_A
Known GenesADCYAP1R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606522
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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