A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990176



Internal ID19229169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134656754..134657754hg38UCSC Ensembl
Outerchr9:137548600..137549600hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122247
Supporting Variants
SamplesKWS2
Known GenesCOL5A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990176
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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