A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968601



Internal ID18880730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:32486482..32487582hg38UCSC Ensembl
Outerchr17:30813500..30814600hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121934
Supporting Variants
SamplesKWS2
Known GenesCDK5R1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968601
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