A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4441



Internal ID15192482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:97694463..97728803hg38UCSC Ensembl
Outerchr2:98310926..98345266hg19UCSC Ensembl
Outerchr2:97677358..97711698hg18UCSC Ensembl
Outerchr2:97769444..97803784hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg385400
hg195400
hg185400
hg175400
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2837
Supporting Variants
SamplesNA12878
Known GenesLINC01125, ZAP70
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)nssv4441
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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