A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575138



Internal ID16015861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45641777..45707411hg38UCSC Ensembl
Innerchr17:43719143..43784777hg19UCSC Ensembl
Innerchr17:41074926..41140560hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3865635
hg1965635
hg1865635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149368
SamplesHGDP00868
Known GenesCRHR1, CRHR1-IT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575138
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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