A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126580



Internal ID18930994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233723054..233724054hg38UCSC Ensembl
Outerchr2:234631700..234632700hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984837
SamplesKWS1
Known GenesUGT1A10, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126580
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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