A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608334



Internal ID16049057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:122030468..122085907hg38UCSC Ensembl
Innerchr7:121670522..121725961hg19UCSC Ensembl
Innerchr7:121457758..121513197hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3855440
hg1955440
hg1855440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1093595
Samples
Known GenesAASS, PTPRZ1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608334
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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