A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2525



Internal ID15193911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:70438702..71105908hg38UCSC Ensembl
Outerchr5:69734529..70401735hg19UCSC Ensembl
Outerchr5:69770285..70437491hg18UCSC Ensembl
Outerchr5:69770285..70437491hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38667207
hg19667207
hg18667207
hg17667207
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7371
Supporting Variants
SamplesNA18555
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)nssv2525
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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