A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130401



Internal ID19251626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53671695..53671893hg38UCSC Ensembl
Outerchr2:53898832..53899030hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1913n106
Supporting Variantsnssv3966327
SamplesKWS2
Known GenesASB3, GPR75-ASB3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130401
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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