A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957235



Internal ID17306108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:176509077..176509638hg38UCSC Ensembl
Outerchr1:176478213..176478774hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10n73
Supporting Variantsnssv3005065
SamplesBILGI_BIOE
Known GenesPAPPA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957235
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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