A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5571



Internal ID15543879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:52155519..52187874hg38UCSC Ensembl
Outerchr1:52621191..52653546hg19UCSC Ensembl
Outerchr1:52393779..52426134hg18UCSC Ensembl
Outerchr1:52333212..52365567hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386912
hg196912
hg186912
hg176912
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv855
Supporting Variants
SamplesNA19129
Known GenesZFYVE9
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)nssv5571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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