A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112574



Internal ID18935270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12348901..12349701hg38UCSC Ensembl
Outerchr10:12390900..12391700hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980696, nssv3966675
SamplesKWS1, KWS2
Known GenesCAMK1D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112574
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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