A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121934



Internal ID18923017
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 StatusM
Merged Variants
Supporting Variantsnssv3968601
SamplesKWS2
Known GenesCDK5R1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121934
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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