A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140580



Internal ID19285807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150261102..150261171hg38UCSC Ensembl
Outerchr5:149640665..149640734hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992078, nssv3956905
SamplesKWS2, KWS1
Known GenesCAMK2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140580
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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