A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548999



Internal ID15989722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202159984..202184455hg38UCSC Ensembl
Innerchr1:202129112..202153583hg19UCSC Ensembl
Innerchr1:200395735..200420206hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3824472
hg1924472
hg1824472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174035
SamplesHGDP00136
Known GenesPTPN7, PTPRVP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548999
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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