A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128963



Internal ID18904916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152273615..152277015hg38UCSC Ensembl
Outerchr7:151970700..151974100hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3699n106
Supporting Variantsnssv3961634
SamplesKWS1
Known GenesKMT2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128963
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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