A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122021



Internal ID18913995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237544457..237545157hg38UCSC Ensembl
Outerchr2:238453100..238453800hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969446
SamplesKWS2
Known GenesMLPH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122021
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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