A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121933



Internal ID19262626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29589282..29589682hg38UCSC Ensembl
Outerchr17:27916300..27916700hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968600
SamplesKWS2
Known GenesGIT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121933
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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