A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2356



Internal ID15194097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20479145..20511497hg38UCSC Ensembl
Outerchr22:20833432..20865784hg19UCSC Ensembl
Outerchr22:19163432..19195784hg18UCSC Ensembl
Outerchr22:19157986..19190338hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg387664
hg197664
hg187664
hg177664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3561
Supporting Variants
SamplesNA18555
Known GenesKLHL22, MED15
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv2356
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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