A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548



Internal ID15538276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74713348..74748765hg38UCSC Ensembl
Outerchr7:74127668..74163102hg19UCSC Ensembl
Outerchr7:73765604..73801038hg18UCSC Ensembl
Outerchr7:73572319..73607753hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg384313
hg194313
hg184313
hg174313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5794
Supporting Variants
SamplesNA12878
Known GenesGTF2I
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)nssv3548
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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