A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606523



Internal ID16393932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31034599..31082927hg38UCSC Ensembl
Innerchr7:31074214..31122542hg19UCSC Ensembl
Innerchr7:31040739..31089067hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3848329
hg1948329
hg1848329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11257n54
Supporting Variantsnssv1154930
SamplesHGDP00850
Known GenesADCYAP1R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606523
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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