A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128306



Internal ID19280388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27613318..27613369hg38UCSC Ensembl
Outerchr7:27652937..27652988hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958600
SamplesKWS1
Known GenesHIBADH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128306
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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