A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118768



Internal ID19284282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74858158..74858677hg38UCSC Ensembl
Outerchr17:72854300..72854800hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38520
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981078
SamplesKWS1
Known GenesGRIN2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118768
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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