A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145323



Internal ID18904735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17076286..17100733hg38UCSC Ensembl
Outerchr1:17402781..17427228hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3824448
hg1924448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982419
SamplesKWS1
Known GenesPADI2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145323
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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