A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124002



Internal ID19273205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:160110166..160110231hg38UCSC Ensembl
Outerchr5:159537173..159537238hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974183
SamplesKWS2
Known GenesPWWP2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124002
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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