A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3624



Internal ID15548252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38552181..38602777hg38UCSC Ensembl
Outerchr22:38948186..38998782hg19UCSC Ensembl
Outerchr22:37278132..37328728hg18UCSC Ensembl
Outerchr22:37272686..37323282hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3850597
hg1950597
hg1850597
hg1750597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2373, nssv7747
SamplesNA12156, NA18555
Known GenesDMC1, FAM227A
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)nsv3624
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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