A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135045



Internal ID19251603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49151125..49151409hg38UCSC Ensembl
Outerchr17:47228487..47228771hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1479n106
Supporting Variantsnssv3988593
SamplesKWS2
Known GenesB4GALNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135045
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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