A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3953



Internal ID15538680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2319672..2348619hg38UCSC Ensembl
Outerchr1:2251111..2280058hg19UCSC Ensembl
Outerchr1:2240971..2269918hg18UCSC Ensembl
Outerchr1:2283273..2312220hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg384609
hg194609
hg184609
hg174609
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4742
Supporting Variants
SamplesNA12878
Known GenesMORN1
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)nssv3953
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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