A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2952273



Internal ID15305650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88041469..88042901hg38UCSC Ensembl
Innerchr7:87670784..87672216hg19UCSC Ensembl
Innerchr7:87508720..87510152hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381433
hg191433
hg181433
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514430
Supporting Variants
SamplesNA12818
Known GenesADAM22
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2952273
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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