A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv825



Internal ID15206160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93650553..93682580hg38UCSC Ensembl
Outerchr12:94044329..94076356hg19UCSC Ensembl
Outerchr12:92568460..92600487hg18UCSC Ensembl
Outerchr12:92546797..92578824hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg387201
hg197201
hg187201
hg177201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5445
SamplesNA19129
Known GenesCRADD
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)nsv825
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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