A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123105



Internal ID19268175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21404008..21404073hg38UCSC Ensembl
Outerchr17:21307320..21307385hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991096, nssv3955286
SamplesKWS2, KWS1
Known GenesKCNJ12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123105
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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