A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143856



Internal ID19258687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45750334..45754634hg38UCSC Ensembl
Outerchr17:43827700..43832000hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994552
SamplesKWS1
Known GenesCRHR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143856
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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