A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5250



Internal ID15203355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33597240..33630593hg38UCSC Ensembl
Outerchr6:33565017..33598370hg19UCSC Ensembl
Outerchr6:33672995..33706348hg18UCSC Ensembl
Outerchr6:33672995..33706348hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3833354
hg1933354
hg1833354
hg1733354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2582
SamplesNA18555
Known GenesITPR3
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)nsv5250
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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