A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030332



Internal ID19119551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:158324554..158372965hg38UCSC Ensembl
Innerchr7:158117246..158165657hg19UCSC Ensembl
Innerchr7:157810007..157858418hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3848412
hg1948412
hg1848412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6770n100
Supporting Variantsnssv3674740
Samples
Known GenesPTPRN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030332
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer