A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121720



Internal ID18929221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39798786..39805013hg38UCSC Ensembl
Outerchr17:37955039..37961266hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386228
hg196228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968369, nssv3984365
SamplesKWS2, KWS1
Known GenesIKZF3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121720
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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