A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593628



Internal ID16034351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8253057..8318399hg38UCSC Ensembl
Innerchr4:8254784..8320126hg19UCSC Ensembl
Innerchr4:8305684..8371026hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3865343
hg1965343
hg1865343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152626
SamplesHGDP01023
Known GenesHTRA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593628
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