A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145431



Internal ID18912003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12413523..12413574hg38UCSC Ensembl
Outerchr10:12455522..12455573hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982568
SamplesKWS1
Known GenesCAMK1D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145431
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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