A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7576



Internal ID15189602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148504612..148564720hg38UCSC Ensembl
Outerchr1:147976829..148009525hg19UCSC Ensembl
Outerchr1:146443453..146476149hg18UCSC Ensembl
Outerchr1:145091741..145124437hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385946
hg195946
hg185946
hg175946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2755
Supporting Variants
SamplesNA12156
Known GenesNBPF10, NBPF8
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)nssv7576
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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