A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952263



Internal ID17301137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:176509065..176509664hg38UCSC Ensembl
Outerchr1:176478201..176478800hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10n73
Supporting Variantsnssv2998423
SamplesBILGI_BIOE
Known GenesPAPPA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952263
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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