A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140821



Internal ID18906095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:92106375..92106428hg38UCSC Ensembl
Outerchr7:91735689..91735742hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975960, nssv3958313
SamplesKWS1, KWS2
Known GenesAKAP9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140821
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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