A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1500



Internal ID15197515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9613692..9625058hg38UCSC Ensembl
Outerchr1:9673750..9685116hg19UCSC Ensembl
Outerchr1:9596337..9607703hg18UCSC Ensembl
Outerchr1:9608016..9619382hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387827
hg197827
hg187827
hg177827
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2187
Supporting Variants
SamplesNA19240
Known GenesTMEM201
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)nssv1500
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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