A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122484



Internal ID19274458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5156477..5156527hg38UCSC Ensembl
Outerchr10:5198671..5198731hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3851
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985415, nssv3968150
SamplesKWS2, KWS1
Known GenesAKR1CL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122484
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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