A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv222n106



Internal ID22794050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176509064..176509664hg38UCSC Ensembl
chr1:176478200..176478800hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129871, nsv1111848, nsv1117876
SamplesKWS2, KWS1
Known GenesPAPPA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv222n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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