A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978627



Internal ID18892347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16543177..16864978hg38UCSC Ensembl
Outerchr1:16869672..17191473hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38321802
hg19321802
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116446
Supporting Variants
SamplesKWS2
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978627
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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