A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001772



Internal ID17294724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88022682..88054981hg38UCSC Ensembl
Outerchr2:88322201..88354500hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3832300
hg1932300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955227
Supporting Variants
SamplesBILGI_BIOE
Known GenesKRCC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001772
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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