A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7450



Internal ID15552461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72721314..72962963hg38UCSC Ensembl
OuterchrX:71941159..72182791hg19UCSC Ensembl
OuterchrX:71857884..72099516hg18UCSC Ensembl
OuterchrX:71724180..71965812hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38241650
hg19241633
hg18241633
hg17241633
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9778, nssv6341, nssv6342
SamplesNA18507, NA12156
Known GenesDMRTC1, DMRTC1B, FAM226A, FAM226B, LINC00684
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)nsv7450
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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